SNP Links for Protein (Select 269315865) - SNP

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Links from Protein

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Select item 14876280581.

rs1487628058 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:29562855 (GRCh38)
17:27889873 (GRCh37)
Canonical SPDI:: NC_000017.11:29562854:T:G
Gene:: ABHD15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29562855T>G, NC_000017.10:g.27889873T>G, NM_198147.3:c.1113A>C, NM_198147.2:c.1113A>C

Select item 14861300202.

rs1486130020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566773 (GRCh38)
17:27893791 (GRCh37)
Canonical SPDI:: NC_000017.11:29566772:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29566773G>A, NC_000017.10:g.27893791G>A, NM_198147.3:c.194C>T, NM_198147.2:c.194C>T, NP_937790.2:p.Pro65Leu

Select item 14860987463.

rs1486098746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566237 (GRCh38)
17:27893255 (GRCh37)
Canonical SPDI:: NC_000017.11:29566236:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29566237G>A, NC_000017.10:g.27893255G>A, NM_198147.3:c.730C>T, NM_198147.2:c.730C>T

Select item 14859428644.

rs1485942864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566415 (GRCh38)
17:27893433 (GRCh37)
Canonical SPDI:: NC_000017.11:29566414:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29566415G>A, NC_000017.10:g.27893433G>A, NM_198147.3:c.552C>T, NM_198147.2:c.552C>T, XM_047437003.1:c.-448G>A

Select item 14851208175.

rs1485120817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566475 (GRCh38)
17:27893493 (GRCh37)
Canonical SPDI:: NC_000017.11:29566474:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.29566475G>A, NC_000017.10:g.27893493G>A, NM_198147.3:c.492C>T, NM_198147.2:c.492C>T, XM_047437003.1:c.-388G>A

Select item 14838618356.

rs1483861835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566818 (GRCh38)
17:27893836 (GRCh37)
Canonical SPDI:: NC_000017.11:29566817:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000212/4 (TOMMO)
HGVS:: NC_000017.11:g.29566818G>A, NC_000017.10:g.27893836G>A, NM_198147.3:c.149C>T, NM_198147.2:c.149C>T, NP_937790.2:p.Ala50Val

Select item 14826753017.

rs1482675301 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29562960 (GRCh38)
17:27889978 (GRCh37)
Canonical SPDI:: NC_000017.11:29562959:C:T
Gene:: ABHD15 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29562960C>T, NC_000017.10:g.27889978C>T, NM_198147.3:c.1008G>A, NM_198147.2:c.1008G>A, NP_937790.2:p.Trp336Ter

Select item 14745337698.

rs1474533769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29566619 (GRCh38)
17:27893637 (GRCh37)
Canonical SPDI:: NC_000017.11:29566618:T:C
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.29566619T>C, NC_000017.10:g.27893637T>C, NM_198147.3:c.348A>G, NM_198147.2:c.348A>G

Select item 14732271249.

rs1473227124 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:29562677 (GRCh38)
17:27889695 (GRCh37)
Canonical SPDI:: NC_000017.11:29562676:G:
Gene:: ABHD15 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.29562677del, NC_000017.10:g.27889695del, NM_198147.3:c.1291del, NM_198147.2:c.1291del, NP_937790.2:p.His431fs

Select item 147179902510.

rs1471799025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29562878 (GRCh38)
17:27889896 (GRCh37)
Canonical SPDI:: NC_000017.11:29562877:C:T
Gene:: ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.29562878C>T, NC_000017.10:g.27889896C>T, NM_198147.3:c.1090G>A, NM_198147.2:c.1090G>A, NP_937790.2:p.Gly364Arg

Select item 147141329211.

rs1471413292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:29562967 (GRCh38)
17:27889985 (GRCh37)
Canonical SPDI:: NC_000017.11:29562966:G:A,NC_000017.11:29562966:G:C
Gene:: ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29562967G>A, NC_000017.11:g.29562967G>C, NC_000017.10:g.27889985G>A, NC_000017.10:g.27889985G>C, NM_198147.3:c.1001C>T, NM_198147.3:c.1001C>G, NM_198147.2:c.1001C>T, NM_198147.2:c.1001C>G, NP_937790.2:p.Thr334Ile, NP_937790.2:p.Thr334Ser

Select item 146969105812.

rs1469691058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:29562906 (GRCh38)
17:27889924 (GRCh37)
Canonical SPDI:: NC_000017.11:29562905:A:G
Gene:: ABHD15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29562906A>G, NC_000017.10:g.27889924A>G, NM_198147.3:c.1062T>C, NM_198147.2:c.1062T>C

Select item 146958613913.

rs1469586139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566720 (GRCh38)
17:27893738 (GRCh37)
Canonical SPDI:: NC_000017.11:29566719:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0003/1 (ALFA)
HGVS:: NC_000017.11:g.29566720G>A, NC_000017.10:g.27893738G>A, NM_198147.3:c.247C>T, NM_198147.2:c.247C>T

Select item 146844062614.

rs1468440626 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCTACG>- [Show Flanks]
Chromosome:: 17:29566616 (GRCh38)
17:27893634 (GRCh37)
Canonical SPDI:: NC_000017.11:29566614:GCGCTACG:G
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29566616_29566622del, NC_000017.10:g.27893634_27893640del, NM_198147.3:c.346_352del, NM_198147.2:c.346_352del, NP_937790.2:p.Val116fs

Select item 146709889815.

rs1467098898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:29566850 (GRCh38)
17:27893868 (GRCh37)
Canonical SPDI:: NC_000017.11:29566849:C:A,NC_000017.11:29566849:C:T
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000038/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29566850C>A, NC_000017.11:g.29566850C>T, NC_000017.10:g.27893868C>A, NC_000017.10:g.27893868C>T, NM_198147.3:c.117G>T, NM_198147.3:c.117G>A, NM_198147.2:c.117G>T, NM_198147.2:c.117G>A

Select item 146605234416.

rs1466052344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29566678 (GRCh38)
17:27893696 (GRCh37)
Canonical SPDI:: NC_000017.11:29566677:G:A
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.29566678G>A, NC_000017.10:g.27893696G>A, NM_198147.3:c.289C>T, NM_198147.2:c.289C>T, NP_937790.2:p.Pro97Ser

Select item 146311055117.

rs1463110551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:29566650 (GRCh38)
17:27893668 (GRCh37)
Canonical SPDI:: NC_000017.11:29566649:A:C
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29566650A>C, NC_000017.10:g.27893668A>C, NM_198147.3:c.317T>G, NM_198147.2:c.317T>G, NP_937790.2:p.Leu106Arg

Select item 146220029218.

rs1462200292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:29566313 (GRCh38)
17:27893331 (GRCh37)
Canonical SPDI:: NC_000017.11:29566312:C:A,NC_000017.11:29566312:C:T
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000021/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29566313C>A, NC_000017.11:g.29566313C>T, NC_000017.10:g.27893331C>A, NC_000017.10:g.27893331C>T, NM_198147.3:c.654G>T, NM_198147.3:c.654G>A, NM_198147.2:c.654G>T, NM_198147.2:c.654G>A, XM_047437003.1:c.-550C>A, XM_047437003.1:c.-550C>T

Select item 146048793619.

rs1460487936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29566828 (GRCh38)
17:27893846 (GRCh37)
Canonical SPDI:: NC_000017.11:29566827:C:T
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29566828C>T, NC_000017.10:g.27893846C>T, NM_198147.3:c.139G>A, NM_198147.2:c.139G>A, NP_937790.2:p.Gly47Arg

Select item 146036905920.

rs1460369059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:29566882 (GRCh38)
17:27893900 (GRCh37)
Canonical SPDI:: NC_000017.11:29566881:A:T
Gene:: TP53I13 (Varview), ABHD15 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000065/6 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29566882A>T, NC_000017.10:g.27893900A>T, NM_198147.3:c.85T>A, NM_198147.2:c.85T>A, NP_937790.2:p.Trp29Arg

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