SNP Links for Protein (Select 578821249) - SNP

Links from Protein

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Select item 14905687791.

rs1490568779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65582897 (GRCh38)
11:65350368 (GRCh37)
Canonical SPDI:: NC_000011.10:65582896:A:G
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65582897A>G, NC_000011.9:g.65350368A>G, XM_006718487.5:c.2261A>G, XM_006718487.4:c.2261A>G, XM_006718487.3:c.2261A>G, XM_006718487.2:c.2261A>G, XM_006718487.1:c.2261A>G, XM_006718486.4:c.2261A>G, XM_006718486.3:c.2261A>G, XM_006718486.2:c.2261A>G, XM_006718486.1:c.2261A>G, NM_001099409.3:c.2225A>G, NM_001099409.2:c.2225A>G, NM_001099409.1:c.2225A>G, XM_017017468.2:c.2162A>G, XM_017017468.1:c.2162A>G, XM_017017467.2:c.2162A>G, XM_017017467.1:c.2162A>G, XM_047426704.1:c.2045A>G, XP_006718550.1:p.Glu754Gly, XP_006718549.1:p.Glu754Gly, NP_001092879.1:p.Glu742Gly, XP_016872957.1:p.Glu721Gly, XP_016872956.1:p.Glu721Gly, XP_047282660.1:p.Glu682Gly

Select item 14902648092.

rs1490264809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65581582 (GRCh38)
11:65349053 (GRCh37)
Canonical SPDI:: NC_000011.10:65581581:C:A
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.65581582C>A, NC_000011.9:g.65349053C>A, XM_006718487.5:c.946C>A, XM_006718487.4:c.946C>A, XM_006718487.3:c.946C>A, XM_006718487.2:c.946C>A, XM_006718487.1:c.946C>A, XM_006718486.4:c.946C>A, XM_006718486.3:c.946C>A, XM_006718486.2:c.946C>A, XM_006718486.1:c.946C>A, XM_005273867.4:c.946C>A, XM_005273867.3:c.946C>A, XM_005273867.2:c.946C>A, XM_005273867.1:c.946C>A, XM_005273868.4:c.946C>A, XM_005273868.3:c.946C>A, XM_005273868.2:c.946C>A, XM_005273868.1:c.946C>A, NM_001099409.3:c.910C>A, NM_001099409.2:c.910C>A, NM_001099409.1:c.910C>A, XM_017017468.2:c.847C>A, XM_017017468.1:c.847C>A, XM_017017467.2:c.847C>A, XM_017017467.1:c.847C>A, XM_024448416.2:c.946C>A, XM_024448416.1:c.946C>A, XM_047426704.1:c.730C>A, XM_047426705.1:c.910C>A, XP_006718550.1:p.Pro316Thr, XP_006718549.1:p.Pro316Thr, XP_005273924.1:p.Pro316Thr, XP_005273925.1:p.Pro316Thr, NP_001092879.1:p.Pro304Thr, XP_016872957.1:p.Pro283Thr, XP_016872956.1:p.Pro283Thr, XP_024304184.1:p.Pro316Thr, XP_047282660.1:p.Pro244Thr, XP_047282661.1:p.Pro304Thr

Select item 14902398443.

rs1490239844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65582284 (GRCh38)
11:65349755 (GRCh37)
Canonical SPDI:: NC_000011.10:65582283:G:A
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.65582284G>A, NC_000011.9:g.65349755G>A, XM_006718487.5:c.1648G>A, XM_006718487.4:c.1648G>A, XM_006718487.3:c.1648G>A, XM_006718487.2:c.1648G>A, XM_006718487.1:c.1648G>A, XM_006718486.4:c.1648G>A, XM_006718486.3:c.1648G>A, XM_006718486.2:c.1648G>A, XM_006718486.1:c.1648G>A, NM_001099409.3:c.1612G>A, NM_001099409.2:c.1612G>A, NM_001099409.1:c.1612G>A, XM_017017468.2:c.1549G>A, XM_017017468.1:c.1549G>A, XM_017017467.2:c.1549G>A, XM_017017467.1:c.1549G>A, XM_047426704.1:c.1432G>A, XP_006718550.1:p.Val550Met, XP_006718549.1:p.Val550Met, NP_001092879.1:p.Val538Met, XP_016872957.1:p.Val517Met, XP_016872956.1:p.Val517Met, XP_047282660.1:p.Val478Met

Select item 14894930764.

rs1489493076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65580457 (GRCh38)
11:65347928 (GRCh37)
Canonical SPDI:: NC_000011.10:65580456:C:T
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65580457C>T, NC_000011.9:g.65347928C>T, XM_006718487.5:c.612C>T, XM_006718487.4:c.612C>T, XM_006718487.3:c.612C>T, XM_006718487.2:c.612C>T, XM_006718487.1:c.612C>T, XM_006718486.4:c.612C>T, XM_006718486.3:c.612C>T, XM_006718486.2:c.612C>T, XM_006718486.1:c.612C>T, XM_005273867.4:c.612C>T, XM_005273867.3:c.612C>T, XM_005273867.2:c.612C>T, XM_005273867.1:c.612C>T, XM_005273868.4:c.612C>T, XM_005273868.3:c.612C>T, XM_005273868.2:c.612C>T, XM_005273868.1:c.612C>T, XM_005273869.4:c.612C>T, XM_005273869.3:c.612C>T, XM_005273869.2:c.612C>T, XM_005273869.1:c.612C>T, XM_005273870.4:c.612C>T, XM_005273870.3:c.612C>T, XM_005273870.2:c.612C>T, XM_005273870.1:c.612C>T, NM_001099409.3:c.612C>T, NM_001099409.2:c.612C>T, NM_001099409.1:c.612C>T, XM_017017468.2:c.513C>T, XM_017017468.1:c.513C>T, XM_017017467.2:c.513C>T, XM_017017467.1:c.513C>T, NM_001351087.2:c.612C>T, NM_001351087.1:c.612C>T, XM_024448416.2:c.612C>T, XM_024448416.1:c.612C>T, XM_047426704.1:c.396C>T, XM_047426705.1:c.612C>T, XR_007062731.1:n.512G>A

Select item 14884627415.

rs1488462741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65579349 (GRCh38)
11:65346820 (GRCh37)
Canonical SPDI:: NC_000011.10:65579348:C:T
Gene:: EHBP1L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.65579349C>T, NC_000011.9:g.65346820C>T, XM_006718487.5:c.171C>T, XM_006718487.4:c.171C>T, XM_006718487.3:c.171C>T, XM_006718487.2:c.171C>T, XM_006718487.1:c.171C>T, XM_006718486.4:c.171C>T, XM_006718486.3:c.171C>T, XM_006718486.2:c.171C>T, XM_006718486.1:c.171C>T, XM_005273867.4:c.171C>T, XM_005273867.3:c.171C>T, XM_005273867.2:c.171C>T, XM_005273867.1:c.171C>T, XM_005273868.4:c.171C>T, XM_005273868.3:c.171C>T, XM_005273868.2:c.171C>T, XM_005273868.1:c.171C>T, XM_005273869.4:c.171C>T, XM_005273869.3:c.171C>T, XM_005273869.2:c.171C>T, XM_005273869.1:c.171C>T, XM_005273870.4:c.171C>T, XM_005273870.3:c.171C>T, XM_005273870.2:c.171C>T, XM_005273870.1:c.171C>T, NM_001099409.3:c.171C>T, NM_001099409.2:c.171C>T, NM_001099409.1:c.171C>T, XM_017017468.2:c.72C>T, XM_017017468.1:c.72C>T, XM_017017467.2:c.72C>T, XM_017017467.1:c.72C>T, NM_001351087.2:c.171C>T, NM_001351087.1:c.171C>T, XM_024448416.2:c.171C>T, XM_024448416.1:c.171C>T, XM_047426704.1:c.-46C>T, XM_047426705.1:c.171C>T

Select item 14884128086.

rs1488412808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65580418 (GRCh38)
11:65347889 (GRCh37)
Canonical SPDI:: NC_000011.10:65580417:T:C
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65580418T>C, NC_000011.9:g.65347889T>C, XM_006718487.5:c.573T>C, XM_006718487.4:c.573T>C, XM_006718487.3:c.573T>C, XM_006718487.2:c.573T>C, XM_006718487.1:c.573T>C, XM_006718486.4:c.573T>C, XM_006718486.3:c.573T>C, XM_006718486.2:c.573T>C, XM_006718486.1:c.573T>C, XM_005273867.4:c.573T>C, XM_005273867.3:c.573T>C, XM_005273867.2:c.573T>C, XM_005273867.1:c.573T>C, XM_005273868.4:c.573T>C, XM_005273868.3:c.573T>C, XM_005273868.2:c.573T>C, XM_005273868.1:c.573T>C, XM_005273869.4:c.573T>C, XM_005273869.3:c.573T>C, XM_005273869.2:c.573T>C, XM_005273869.1:c.573T>C, XM_005273870.4:c.573T>C, XM_005273870.3:c.573T>C, XM_005273870.2:c.573T>C, XM_005273870.1:c.573T>C, NM_001099409.3:c.573T>C, NM_001099409.2:c.573T>C, NM_001099409.1:c.573T>C, XM_017017468.2:c.474T>C, XM_017017468.1:c.474T>C, XM_017017467.2:c.474T>C, XM_017017467.1:c.474T>C, NM_001351087.2:c.573T>C, NM_001351087.1:c.573T>C, XM_024448416.2:c.573T>C, XM_024448416.1:c.573T>C, XM_047426704.1:c.357T>C, XM_047426705.1:c.573T>C, XR_007062731.1:n.551A>G

Select item 14876744357.

rs1487674435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:65580158 (GRCh38)
11:65347629 (GRCh37)
Canonical SPDI:: NC_000011.10:65580157:A:T
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65580158A>T, NC_000011.9:g.65347629A>T, XM_006718487.5:c.390A>T, XM_006718487.4:c.390A>T, XM_006718487.3:c.390A>T, XM_006718487.2:c.390A>T, XM_006718487.1:c.390A>T, XM_006718486.4:c.390A>T, XM_006718486.3:c.390A>T, XM_006718486.2:c.390A>T, XM_006718486.1:c.390A>T, XM_005273867.4:c.390A>T, XM_005273867.3:c.390A>T, XM_005273867.2:c.390A>T, XM_005273867.1:c.390A>T, XM_005273868.4:c.390A>T, XM_005273868.3:c.390A>T, XM_005273868.2:c.390A>T, XM_005273868.1:c.390A>T, XM_005273869.4:c.390A>T, XM_005273869.3:c.390A>T, XM_005273869.2:c.390A>T, XM_005273869.1:c.390A>T, XM_005273870.4:c.390A>T, XM_005273870.3:c.390A>T, XM_005273870.2:c.390A>T, XM_005273870.1:c.390A>T, NM_001099409.3:c.390A>T, NM_001099409.2:c.390A>T, NM_001099409.1:c.390A>T, XM_017017468.2:c.291A>T, XM_017017468.1:c.291A>T, XM_017017467.2:c.291A>T, XM_017017467.1:c.291A>T, NM_001351087.2:c.390A>T, NM_001351087.1:c.390A>T, XM_024448416.2:c.390A>T, XM_024448416.1:c.390A>T, XM_047426704.1:c.174A>T, XM_047426705.1:c.390A>T, XR_007062731.1:n.811T>A, XP_006718550.1:p.Gln130His, XP_006718549.1:p.Gln130His, XP_005273924.1:p.Gln130His, XP_005273925.1:p.Gln130His, XP_005273926.1:p.Gln130His, XP_005273927.1:p.Gln130His, NP_001092879.1:p.Gln130His, XP_016872957.1:p.Gln97His, XP_016872956.1:p.Gln97His, NP_001338016.1:p.Gln130His, XP_024304184.1:p.Gln130His, XP_047282660.1:p.Gln58His, XP_047282661.1:p.Gln130His

Select item 14875051928.

rs1487505192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65585563 (GRCh38)
11:65353034 (GRCh37)
Canonical SPDI:: NC_000011.10:65585562:A:G
Gene:: EHBP1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65585563A>G, NC_000011.9:g.65353034A>G, XM_006718486.4:c.3941A>G, XM_006718486.3:c.3941A>G, XM_006718486.2:c.3941A>G, XM_006718486.1:c.3941A>G, XM_005273867.4:c.2315A>G, XM_005273867.3:c.2315A>G, XM_005273867.2:c.2315A>G, XM_005273867.1:c.2315A>G, XM_005273868.4:c.2141A>G, XM_005273868.3:c.2141A>G, XM_005273868.2:c.2141A>G, XM_005273868.1:c.2141A>G, XM_005273869.4:c.1841A>G, XM_005273869.3:c.1841A>G, XM_005273869.2:c.1841A>G, XM_005273869.1:c.1841A>G, XM_005273870.4:c.1667A>G, XM_005273870.3:c.1667A>G, XM_005273870.2:c.1667A>G, XM_005273870.1:c.1667A>G, XM_011544886.4:c.857A>G, XM_011544886.3:c.857A>G, XM_011544886.2:c.857A>G, XM_011544886.1:c.857A>G, NM_001099409.3:c.3905A>G, NM_001099409.2:c.3905A>G, NM_001099409.1:c.3905A>G, XM_017017468.2:c.3842A>G, XM_017017468.1:c.3842A>G, XM_017017467.2:c.3842A>G, XM_017017467.1:c.3842A>G, NM_001351087.2:c.1631A>G, NM_001351087.1:c.1631A>G, XM_047426704.1:c.3725A>G, XM_047426705.1:c.2105A>G, XP_006718549.1:p.Asp1314Gly, XP_005273924.1:p.Asp772Gly, XP_005273925.1:p.Asp714Gly, XP_005273926.1:p.Asp614Gly, XP_005273927.1:p.Asp556Gly, XP_011543188.1:p.Asp286Gly, NP_001092879.1:p.Asp1302Gly, XP_016872957.1:p.Asp1281Gly, XP_016872956.1:p.Asp1281Gly, NP_001338016.1:p.Asp544Gly, XP_047282660.1:p.Asp1242Gly, XP_047282661.1:p.Asp702Gly

Select item 14874123059.

rs1487412305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:65581638 (GRCh38)
11:65349109 (GRCh37)
Canonical SPDI:: NC_000011.10:65581637:T:A
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000057/2 (ALFA)
A=0.000018/3 (GnomAD_exomes)
A=0.000042/11 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.65581638T>A, NC_000011.9:g.65349109T>A, XM_006718487.5:c.1002T>A, XM_006718487.4:c.1002T>A, XM_006718487.3:c.1002T>A, XM_006718487.2:c.1002T>A, XM_006718487.1:c.1002T>A, XM_006718486.4:c.1002T>A, XM_006718486.3:c.1002T>A, XM_006718486.2:c.1002T>A, XM_006718486.1:c.1002T>A, XM_005273867.4:c.1002T>A, XM_005273867.3:c.1002T>A, XM_005273867.2:c.1002T>A, XM_005273867.1:c.1002T>A, XM_005273868.4:c.1002T>A, XM_005273868.3:c.1002T>A, XM_005273868.2:c.1002T>A, XM_005273868.1:c.1002T>A, NM_001099409.3:c.966T>A, NM_001099409.2:c.966T>A, NM_001099409.1:c.966T>A, XM_017017468.2:c.903T>A, XM_017017468.1:c.903T>A, XM_017017467.2:c.903T>A, XM_017017467.1:c.903T>A, XM_024448416.2:c.1002T>A, XM_024448416.1:c.1002T>A, XM_047426704.1:c.786T>A, XM_047426705.1:c.966T>A, XP_006718550.1:p.Asp334Glu, XP_006718549.1:p.Asp334Glu, XP_005273924.1:p.Asp334Glu, XP_005273925.1:p.Asp334Glu, NP_001092879.1:p.Asp322Glu, XP_016872957.1:p.Asp301Glu, XP_016872956.1:p.Asp301Glu, XP_024304184.1:p.Asp334Glu, XP_047282660.1:p.Asp262Glu, XP_047282661.1:p.Asp322Glu

Select item 148673705710.

rs1486737057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65582341 (GRCh38)
11:65349812 (GRCh37)
Canonical SPDI:: NC_000011.10:65582340:C:A
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.65582341C>A, NC_000011.9:g.65349812C>A, XM_006718487.5:c.1705C>A, XM_006718487.4:c.1705C>A, XM_006718487.3:c.1705C>A, XM_006718487.2:c.1705C>A, XM_006718487.1:c.1705C>A, XM_006718486.4:c.1705C>A, XM_006718486.3:c.1705C>A, XM_006718486.2:c.1705C>A, XM_006718486.1:c.1705C>A, NM_001099409.3:c.1669C>A, NM_001099409.2:c.1669C>A, NM_001099409.1:c.1669C>A, XM_017017468.2:c.1606C>A, XM_017017468.1:c.1606C>A, XM_017017467.2:c.1606C>A, XM_017017467.1:c.1606C>A, XM_047426704.1:c.1489C>A, XP_006718550.1:p.Leu569Met, XP_006718549.1:p.Leu569Met, NP_001092879.1:p.Leu557Met, XP_016872957.1:p.Leu536Met, XP_016872956.1:p.Leu536Met, XP_047282660.1:p.Leu497Met

Select item 148640631711.

rs1486406317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65583286 (GRCh38)
11:65350757 (GRCh37)
Canonical SPDI:: NC_000011.10:65583285:A:G
Gene:: EHBP1L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.65583286A>G, NC_000011.9:g.65350757A>G, XM_006718487.5:c.2650A>G, XM_006718487.4:c.2650A>G, XM_006718487.3:c.2650A>G, XM_006718487.2:c.2650A>G, XM_006718487.1:c.2650A>G, XM_006718486.4:c.2650A>G, XM_006718486.3:c.2650A>G, XM_006718486.2:c.2650A>G, XM_006718486.1:c.2650A>G, NM_001099409.3:c.2614A>G, NM_001099409.2:c.2614A>G, NM_001099409.1:c.2614A>G, XM_017017468.2:c.2551A>G, XM_017017468.1:c.2551A>G, XM_017017467.2:c.2551A>G, XM_017017467.1:c.2551A>G, XM_047426704.1:c.2434A>G, XP_006718550.1:p.Ile884Val, XP_006718549.1:p.Ile884Val, NP_001092879.1:p.Ile872Val, XP_016872957.1:p.Ile851Val, XP_016872956.1:p.Ile851Val, XP_047282660.1:p.Ile812Val

Select item 148573117112.

rs1485731171 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:65583560 (GRCh38)
11:65351031 (GRCh37)
Canonical SPDI:: NC_000011.10:65583557:AGAG:AG
Gene:: EHBP1L1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0003/2 (1000Genomes)
HGVS:: NC_000011.10:g.65583558AG[1], NC_000011.9:g.65351029AG[1], XM_006718487.5:c.2924_2925del, XM_006718487.4:c.2924_2925del, XM_006718487.3:c.2924_2925del, XM_006718487.2:c.2924_2925del, XM_006718487.1:c.2924_2925del, XM_006718486.4:c.2924_2925del, XM_006718486.3:c.2924_2925del, XM_006718486.2:c.2924_2925del, XM_006718486.1:c.2924_2925del, NM_001099409.3:c.2888_2889del, NM_001099409.2:c.2888_2889del, NM_001099409.1:c.2888_2889del, XM_017017468.2:c.2825_2826del, XM_017017468.1:c.2825_2826del, XM_017017467.2:c.2825_2826del, XM_017017467.1:c.2825_2826del, XM_047426704.1:c.2708_2709del, XP_006718550.1:p.Glu975fs, XP_006718549.1:p.Glu975fs, NP_001092879.1:p.Glu963fs, XP_016872957.1:p.Glu942fs, XP_016872956.1:p.Glu942fs, XP_047282660.1:p.Glu903fs

Select item 148566031613.

rs1485660316 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:65585133 (GRCh38)
11:65352604 (GRCh37)
Canonical SPDI:: NC_000011.10:65585132:A:T
Gene:: EHBP1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.65585133A>T, NC_000011.9:g.65352604A>T, XM_006718486.4:c.3511A>T, XM_006718486.3:c.3511A>T, XM_006718486.2:c.3511A>T, XM_006718486.1:c.3511A>T, XM_005273867.4:c.1885A>T, XM_005273867.3:c.1885A>T, XM_005273867.2:c.1885A>T, XM_005273867.1:c.1885A>T, XM_005273868.4:c.1711A>T, XM_005273868.3:c.1711A>T, XM_005273868.2:c.1711A>T, XM_005273868.1:c.1711A>T, XM_005273869.4:c.1411A>T, XM_005273869.3:c.1411A>T, XM_005273869.2:c.1411A>T, XM_005273869.1:c.1411A>T, XM_005273870.4:c.1237A>T, XM_005273870.3:c.1237A>T, XM_005273870.2:c.1237A>T, XM_005273870.1:c.1237A>T, XM_011544886.4:c.427A>T, XM_011544886.3:c.427A>T, XM_011544886.2:c.427A>T, XM_011544886.1:c.427A>T, NM_001099409.3:c.3475A>T, NM_001099409.2:c.3475A>T, NM_001099409.1:c.3475A>T, XM_017017468.2:c.3412A>T, XM_017017468.1:c.3412A>T, XM_017017467.2:c.3412A>T, XM_017017467.1:c.3412A>T, NM_001351087.2:c.1201A>T, NM_001351087.1:c.1201A>T, XM_047426704.1:c.3295A>T, XM_047426705.1:c.1675A>T, XP_006718549.1:p.Thr1171Ser, XP_005273924.1:p.Thr629Ser, XP_005273925.1:p.Thr571Ser, XP_005273926.1:p.Thr471Ser, XP_005273927.1:p.Thr413Ser, XP_011543188.1:p.Thr143Ser, NP_001092879.1:p.Thr1159Ser, XP_016872957.1:p.Thr1138Ser, XP_016872956.1:p.Thr1138Ser, NP_001338016.1:p.Thr401Ser, XP_047282660.1:p.Thr1099Ser, XP_047282661.1:p.Thr559Ser

Select item 148487808614.

rs1484878086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65590121 (GRCh38)
11:65357592 (GRCh37)
Canonical SPDI:: NC_000011.10:65590120:C:T
Gene:: EHBP1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65590121C>T, NC_000011.9:g.65357592C>T, XM_006718486.4:c.4130C>T, XM_006718486.3:c.4130C>T, XM_006718486.2:c.4130C>T, XM_006718486.1:c.4130C>T, XM_005273867.4:c.2504C>T, XM_005273867.3:c.2504C>T, XM_005273867.2:c.2504C>T, XM_005273867.1:c.2504C>T, XM_005273868.4:c.2330C>T, XM_005273868.3:c.2330C>T, XM_005273868.2:c.2330C>T, XM_005273868.1:c.2330C>T, XM_005273869.4:c.2030C>T, XM_005273869.3:c.2030C>T, XM_005273869.2:c.2030C>T, XM_005273869.1:c.2030C>T, XM_005273870.4:c.1856C>T, XM_005273870.3:c.1856C>T, XM_005273870.2:c.1856C>T, XM_005273870.1:c.1856C>T, XM_011544886.4:c.1046C>T, XM_011544886.3:c.1046C>T, XM_011544886.2:c.1046C>T, XM_011544886.1:c.1046C>T, NM_001099409.3:c.4094C>T, NM_001099409.2:c.4094C>T, NM_001099409.1:c.4094C>T, XM_017017468.2:c.4031C>T, XM_017017468.1:c.4031C>T, XM_017017467.2:c.4031C>T, XM_017017467.1:c.4031C>T, NM_001351087.2:c.1820C>T, NM_001351087.1:c.1820C>T, XM_047426704.1:c.3914C>T, XM_047426705.1:c.2294C>T, XP_006718549.1:p.Ala1377Val, XP_005273924.1:p.Ala835Val, XP_005273925.1:p.Ala777Val, XP_005273926.1:p.Ala677Val, XP_005273927.1:p.Ala619Val, XP_011543188.1:p.Ala349Val, NP_001092879.1:p.Ala1365Val, XP_016872957.1:p.Ala1344Val, XP_016872956.1:p.Ala1344Val, NP_001338016.1:p.Ala607Val, XP_047282660.1:p.Ala1305Val, XP_047282661.1:p.Ala765Val

Select item 148346044815.

rs1483460448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65581707 (GRCh38)
11:65349178 (GRCh37)
Canonical SPDI:: NC_000011.10:65581706:A:G
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.65581707A>G, NC_000011.9:g.65349178A>G, XM_006718487.5:c.1071A>G, XM_006718487.4:c.1071A>G, XM_006718487.3:c.1071A>G, XM_006718487.2:c.1071A>G, XM_006718487.1:c.1071A>G, XM_006718486.4:c.1071A>G, XM_006718486.3:c.1071A>G, XM_006718486.2:c.1071A>G, XM_006718486.1:c.1071A>G, XM_005273867.4:c.1071A>G, XM_005273867.3:c.1071A>G, XM_005273867.2:c.1071A>G, XM_005273867.1:c.1071A>G, XM_005273868.4:c.1071A>G, XM_005273868.3:c.1071A>G, XM_005273868.2:c.1071A>G, XM_005273868.1:c.1071A>G, NM_001099409.3:c.1035A>G, NM_001099409.2:c.1035A>G, NM_001099409.1:c.1035A>G, XM_017017468.2:c.972A>G, XM_017017468.1:c.972A>G, XM_017017467.2:c.972A>G, XM_017017467.1:c.972A>G, XM_024448416.2:c.1071A>G, XM_024448416.1:c.1071A>G, XM_047426704.1:c.855A>G, XM_047426705.1:c.1035A>G

Select item 148340710916.

rs1483407109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65583751 (GRCh38)
11:65351222 (GRCh37)
Canonical SPDI:: NC_000011.10:65583750:C:T
Gene:: EHBP1L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.65583751C>T, NC_000011.9:g.65351222C>T, XM_006718487.5:c.3115C>T, XM_006718487.4:c.3115C>T, XM_006718487.3:c.3115C>T, XM_006718487.2:c.3115C>T, XM_006718487.1:c.3115C>T, XM_006718486.4:c.3115C>T, XM_006718486.3:c.3115C>T, XM_006718486.2:c.3115C>T, XM_006718486.1:c.3115C>T, XM_005273867.4:c.1489C>T, XM_005273867.3:c.1489C>T, XM_005273867.2:c.1489C>T, XM_005273867.1:c.1489C>T, XM_005273869.4:c.1015C>T, XM_005273869.3:c.1015C>T, XM_005273869.2:c.1015C>T, XM_005273869.1:c.1015C>T, XM_011544886.4:c.-53C>T, XM_011544886.3:c.-53C>T, XM_011544886.2:c.-53C>T, XM_011544886.1:c.-53C>T, NM_001099409.3:c.3079C>T, NM_001099409.2:c.3079C>T, NM_001099409.1:c.3079C>T, XM_017017468.2:c.3016C>T, XM_017017468.1:c.3016C>T, XM_017017467.2:c.3016C>T, XM_017017467.1:c.3016C>T, XM_047426704.1:c.2899C>T

Select item 148329620017.

rs1483296200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:65585124 (GRCh38)
11:65352595 (GRCh37)
Canonical SPDI:: NC_000011.10:65585123:G:A,NC_000011.10:65585123:G:T
Gene:: EHBP1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65585124G>A, NC_000011.10:g.65585124G>T, NC_000011.9:g.65352595G>A, NC_000011.9:g.65352595G>T, XM_006718486.4:c.3502G>A, XM_006718486.4:c.3502G>T, XM_006718486.3:c.3502G>A, XM_006718486.3:c.3502G>T, XM_006718486.2:c.3502G>A, XM_006718486.2:c.3502G>T, XM_006718486.1:c.3502G>A, XM_006718486.1:c.3502G>T, XM_005273867.4:c.1876G>A, XM_005273867.4:c.1876G>T, XM_005273867.3:c.1876G>A, XM_005273867.3:c.1876G>T, XM_005273867.2:c.1876G>A, XM_005273867.2:c.1876G>T, XM_005273867.1:c.1876G>A, XM_005273867.1:c.1876G>T, XM_005273868.4:c.1702G>A, XM_005273868.4:c.1702G>T, XM_005273868.3:c.1702G>A, XM_005273868.3:c.1702G>T, XM_005273868.2:c.1702G>A, XM_005273868.2:c.1702G>T, XM_005273868.1:c.1702G>A, XM_005273868.1:c.1702G>T, XM_005273869.4:c.1402G>A, XM_005273869.4:c.1402G>T, XM_005273869.3:c.1402G>A, XM_005273869.3:c.1402G>T, XM_005273869.2:c.1402G>A, XM_005273869.2:c.1402G>T, XM_005273869.1:c.1402G>A, XM_005273869.1:c.1402G>T, XM_005273870.4:c.1228G>A, XM_005273870.4:c.1228G>T, XM_005273870.3:c.1228G>A, XM_005273870.3:c.1228G>T, XM_005273870.2:c.1228G>A, XM_005273870.2:c.1228G>T, XM_005273870.1:c.1228G>A, XM_005273870.1:c.1228G>T, XM_011544886.4:c.418G>A, XM_011544886.4:c.418G>T, XM_011544886.3:c.418G>A, XM_011544886.3:c.418G>T, XM_011544886.2:c.418G>A, XM_011544886.2:c.418G>T, XM_011544886.1:c.418G>A, XM_011544886.1:c.418G>T, NM_001099409.3:c.3466G>A, NM_001099409.3:c.3466G>T, NM_001099409.2:c.3466G>A, NM_001099409.2:c.3466G>T, NM_001099409.1:c.3466G>A, NM_001099409.1:c.3466G>T, XM_017017468.2:c.3403G>A, XM_017017468.2:c.3403G>T, XM_017017468.1:c.3403G>A, XM_017017468.1:c.3403G>T, XM_017017467.2:c.3403G>A, XM_017017467.2:c.3403G>T, XM_017017467.1:c.3403G>A, XM_017017467.1:c.3403G>T, NM_001351087.2:c.1192G>A, NM_001351087.2:c.1192G>T, NM_001351087.1:c.1192G>A, NM_001351087.1:c.1192G>T, XM_047426704.1:c.3286G>A, XM_047426704.1:c.3286G>T, XM_047426705.1:c.1666G>A, XM_047426705.1:c.1666G>T, XP_006718549.1:p.Gly1168Ser, XP_006718549.1:p.Gly1168Cys, XP_005273924.1:p.Gly626Ser, XP_005273924.1:p.Gly626Cys, XP_005273925.1:p.Gly568Ser, XP_005273925.1:p.Gly568Cys, XP_005273926.1:p.Gly468Ser, XP_005273926.1:p.Gly468Cys, XP_005273927.1:p.Gly410Ser, XP_005273927.1:p.Gly410Cys, XP_011543188.1:p.Gly140Ser, XP_011543188.1:p.Gly140Cys, NP_001092879.1:p.Gly1156Ser, NP_001092879.1:p.Gly1156Cys, XP_016872957.1:p.Gly1135Ser, XP_016872957.1:p.Gly1135Cys, XP_016872956.1:p.Gly1135Ser, XP_016872956.1:p.Gly1135Cys, NP_001338016.1:p.Gly398Ser, NP_001338016.1:p.Gly398Cys, XP_047282660.1:p.Gly1096Ser, XP_047282660.1:p.Gly1096Cys, XP_047282661.1:p.Gly556Ser, XP_047282661.1:p.Gly556Cys

Select item 148325885518.

rs1483258855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65585585 (GRCh38)
11:65353056 (GRCh37)
Canonical SPDI:: NC_000011.10:65585584:G:A
Gene:: EHBP1L1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000011.10:g.65585585G>A, NC_000011.9:g.65353056G>A, XM_006718486.4:c.3963G>A, XM_006718486.3:c.3963G>A, XM_006718486.2:c.3963G>A, XM_006718486.1:c.3963G>A, XM_005273867.4:c.2337G>A, XM_005273867.3:c.2337G>A, XM_005273867.2:c.2337G>A, XM_005273867.1:c.2337G>A, XM_005273868.4:c.2163G>A, XM_005273868.3:c.2163G>A, XM_005273868.2:c.2163G>A, XM_005273868.1:c.2163G>A, XM_005273869.4:c.1863G>A, XM_005273869.3:c.1863G>A, XM_005273869.2:c.1863G>A, XM_005273869.1:c.1863G>A, XM_005273870.4:c.1689G>A, XM_005273870.3:c.1689G>A, XM_005273870.2:c.1689G>A, XM_005273870.1:c.1689G>A, XM_011544886.4:c.879G>A, XM_011544886.3:c.879G>A, XM_011544886.2:c.879G>A, XM_011544886.1:c.879G>A, NM_001099409.3:c.3927G>A, NM_001099409.2:c.3927G>A, NM_001099409.1:c.3927G>A, XM_017017468.2:c.3864G>A, XM_017017468.1:c.3864G>A, XM_017017467.2:c.3864G>A, XM_017017467.1:c.3864G>A, NM_001351087.2:c.1653G>A, NM_001351087.1:c.1653G>A, XM_047426704.1:c.3747G>A, XM_047426705.1:c.2127G>A

Select item 148276811519.

rs1482768115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:65582217 (GRCh38)
11:65349688 (GRCh37)
Canonical SPDI:: NC_000011.10:65582216:A:C
Gene:: EHBP1L1 (Varview), LOC124902692 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65582217A>C, NC_000011.9:g.65349688A>C, XM_006718487.5:c.1581A>C, XM_006718487.4:c.1581A>C, XM_006718487.3:c.1581A>C, XM_006718487.2:c.1581A>C, XM_006718487.1:c.1581A>C, XM_006718486.4:c.1581A>C, XM_006718486.3:c.1581A>C, XM_006718486.2:c.1581A>C, XM_006718486.1:c.1581A>C, NM_001099409.3:c.1545A>C, NM_001099409.2:c.1545A>C, NM_001099409.1:c.1545A>C, XM_017017468.2:c.1482A>C, XM_017017468.1:c.1482A>C, XM_017017467.2:c.1482A>C, XM_017017467.1:c.1482A>C, XM_047426704.1:c.1365A>C

Select item 148245162420.

rs1482451624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:65585367 (GRCh38)
11:65352838 (GRCh37)
Canonical SPDI:: NC_000011.10:65585366:G:A,NC_000011.10:65585366:G:C
Gene:: EHBP1L1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.65585367G>A, NC_000011.10:g.65585367G>C, NC_000011.9:g.65352838G>A, NC_000011.9:g.65352838G>C, XM_006718486.4:c.3745G>A, XM_006718486.4:c.3745G>C, XM_006718486.3:c.3745G>A, XM_006718486.3:c.3745G>C, XM_006718486.2:c.3745G>A, XM_006718486.2:c.3745G>C, XM_006718486.1:c.3745G>A, XM_006718486.1:c.3745G>C, XM_005273867.4:c.2119G>A, XM_005273867.4:c.2119G>C, XM_005273867.3:c.2119G>A, XM_005273867.3:c.2119G>C, XM_005273867.2:c.2119G>A, XM_005273867.2:c.2119G>C, XM_005273867.1:c.2119G>A, XM_005273867.1:c.2119G>C, XM_005273868.4:c.1945G>A, XM_005273868.4:c.1945G>C, XM_005273868.3:c.1945G>A, XM_005273868.3:c.1945G>C, XM_005273868.2:c.1945G>A, XM_005273868.2:c.1945G>C, XM_005273868.1:c.1945G>A, XM_005273868.1:c.1945G>C, XM_005273869.4:c.1645G>A, XM_005273869.4:c.1645G>C, XM_005273869.3:c.1645G>A, XM_005273869.3:c.1645G>C, XM_005273869.2:c.1645G>A, XM_005273869.2:c.1645G>C, XM_005273869.1:c.1645G>A, XM_005273869.1:c.1645G>C, XM_005273870.4:c.1471G>A, XM_005273870.4:c.1471G>C, XM_005273870.3:c.1471G>A, XM_005273870.3:c.1471G>C, XM_005273870.2:c.1471G>A, XM_005273870.2:c.1471G>C, XM_005273870.1:c.1471G>A, XM_005273870.1:c.1471G>C, XM_011544886.4:c.661G>A, XM_011544886.4:c.661G>C, XM_011544886.3:c.661G>A, XM_011544886.3:c.661G>C, XM_011544886.2:c.661G>A, XM_011544886.2:c.661G>C, XM_011544886.1:c.661G>A, XM_011544886.1:c.661G>C, NM_001099409.3:c.3709G>A, NM_001099409.3:c.3709G>C, NM_001099409.2:c.3709G>A, NM_001099409.2:c.3709G>C, NM_001099409.1:c.3709G>A, NM_001099409.1:c.3709G>C, XM_017017468.2:c.3646G>A, XM_017017468.2:c.3646G>C, XM_017017468.1:c.3646G>A, XM_017017468.1:c.3646G>C, XM_017017467.2:c.3646G>A, XM_017017467.2:c.3646G>C, XM_017017467.1:c.3646G>A, XM_017017467.1:c.3646G>C, NM_001351087.2:c.1435G>A, NM_001351087.2:c.1435G>C, NM_001351087.1:c.1435G>A, NM_001351087.1:c.1435G>C, XM_047426704.1:c.3529G>A, XM_047426704.1:c.3529G>C, XM_047426705.1:c.1909G>A, XM_047426705.1:c.1909G>C, XP_006718549.1:p.Glu1249Lys, XP_006718549.1:p.Glu1249Gln, XP_005273924.1:p.Glu707Lys, XP_005273924.1:p.Glu707Gln, XP_005273925.1:p.Glu649Lys, XP_005273925.1:p.Glu649Gln, XP_005273926.1:p.Glu549Lys, XP_005273926.1:p.Glu549Gln, XP_005273927.1:p.Glu491Lys, XP_005273927.1:p.Glu491Gln, XP_011543188.1:p.Glu221Lys, XP_011543188.1:p.Glu221Gln, NP_001092879.1:p.Glu1237Lys, NP_001092879.1:p.Glu1237Gln, XP_016872957.1:p.Glu1216Lys, XP_016872957.1:p.Glu1216Gln, XP_016872956.1:p.Glu1216Lys, XP_016872956.1:p.Glu1216Gln, NP_001338016.1:p.Glu479Lys, NP_001338016.1:p.Glu479Gln, XP_047282660.1:p.Glu1177Lys, XP_047282660.1:p.Glu1177Gln, XP_047282661.1:p.Glu637Lys, XP_047282661.1:p.Glu637Gln

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