SNP Links for Protein (Select 56676324) - SNP

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Links from Protein

Items: 1 to 20 of 123

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Select item 14758199551.

rs1475819955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205420498 (GRCh38)
1:205389626 (GRCh37)
Canonical SPDI:: NC_000001.11:205420497:C:T
Gene:: LEMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205420498C>T, NC_000001.10:g.205389626C>T, NM_001001552.5:c.39G>A, NM_001001552.4:c.39G>A, XM_011510160.3:c.39G>A, XM_011510160.2:c.39G>A, XM_011510160.1:c.39G>A, XM_011510162.3:c.39G>A, XM_011510162.2:c.39G>A, XM_011510162.1:c.39G>A, XM_011510163.3:c.39G>A, XM_011510163.2:c.39G>A, XM_011510163.1:c.39G>A, NM_001199050.2:c.39G>A, NM_001199050.1:c.39G>A, NM_001199051.2:c.39G>A, NM_001199051.1:c.39G>A, NR_037583.2:n.144G>A, NR_037583.1:n.174G>A, NM_001199052.2:c.39G>A, NM_001199052.1:c.39G>A, XM_047434586.1:c.39G>A

Select item 14631709902.

rs1463170990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:205381796 (GRCh38)
1:205350924 (GRCh37)
Canonical SPDI:: NC_000001.11:205381795:G:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205381796G>T, NC_000001.10:g.205350924G>T, NM_001001552.5:c.266C>A, NM_001001552.4:c.266C>A, XM_011510160.3:c.492C>A, XM_011510160.2:c.492C>A, XM_011510160.1:c.492C>A, XM_011510162.3:c.474C>A, XM_011510162.2:c.474C>A, XM_011510162.1:c.474C>A, XM_011510163.3:c.369C>A, XM_011510163.2:c.369C>A, XM_011510163.1:c.369C>A, NM_001199050.2:c.408C>A, NM_001199050.1:c.408C>A, NM_001199051.2:c.285C>A, NM_001199051.1:c.285C>A, NR_037583.2:n.325C>A, NR_037583.1:n.355C>A, NM_001199052.2:c.143C>A, NM_001199052.1:c.143C>A, XM_047434586.1:c.143C>A, NP_001001552.3:p.Thr89Asn, XP_011508462.1:p.Asp164Glu, XP_011508464.1:p.Asp158Glu, XP_011508465.1:p.Asp123Glu, NP_001185979.1:p.Asp136Glu, NP_001185980.1:p.Asp95Glu, NP_001185981.1:p.Thr48Asn, XP_047290542.1:p.Thr48Asn

Select item 14590615993.

rs1459061599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:205381782 (GRCh38)
1:205350910 (GRCh37)
Canonical SPDI:: NC_000001.11:205381781:T:G
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381782T>G, NC_000001.10:g.205350910T>G, NM_001001552.5:c.280A>C, NM_001001552.4:c.280A>C, XM_011510160.3:c.506A>C, XM_011510160.2:c.506A>C, XM_011510160.1:c.506A>C, XM_011510162.3:c.488A>C, XM_011510162.2:c.488A>C, XM_011510162.1:c.488A>C, XM_011510163.3:c.383A>C, XM_011510163.2:c.383A>C, XM_011510163.1:c.383A>C, NM_001199050.2:c.422A>C, NM_001199050.1:c.422A>C, NM_001199051.2:c.299A>C, NM_001199051.1:c.299A>C, NR_037583.2:n.339A>C, NR_037583.1:n.369A>C, NM_001199052.2:c.157A>C, NM_001199052.1:c.157A>C, XM_047434586.1:c.157A>C, NP_001001552.3:p.Thr94Pro, XP_011508462.1:p.Asp169Ala, XP_011508464.1:p.Asp163Ala, XP_011508465.1:p.Asp128Ala, NP_001185979.1:p.Asp141Ala, NP_001185980.1:p.Asp100Ala, NP_001185981.1:p.Thr53Pro, XP_047290542.1:p.Thr53Pro

Select item 14482923724.

rs1448292372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205381764 (GRCh38)
1:205350892 (GRCh37)
Canonical SPDI:: NC_000001.11:205381763:C:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381764C>T, NC_000001.10:g.205350892C>T, NM_001001552.5:c.298G>A, NM_001001552.4:c.298G>A, XM_011510160.3:c.524G>A, XM_011510160.2:c.524G>A, XM_011510160.1:c.524G>A, XM_011510162.3:c.506G>A, XM_011510162.2:c.506G>A, XM_011510162.1:c.506G>A, XM_011510163.3:c.401G>A, XM_011510163.2:c.401G>A, XM_011510163.1:c.401G>A, NM_001199050.2:c.440G>A, NM_001199050.1:c.440G>A, NM_001199051.2:c.317G>A, NM_001199051.1:c.317G>A, NR_037583.2:n.357G>A, NR_037583.1:n.387G>A, NM_001199052.2:c.175G>A, NM_001199052.1:c.175G>A, XM_047434586.1:c.175G>A, NP_001001552.3:p.Gly100Arg, XP_011508462.1:p.Trp175Ter, XP_011508464.1:p.Trp169Ter, XP_011508465.1:p.Trp134Ter, NP_001185979.1:p.Trp147Ter, NP_001185980.1:p.Trp106Ter, NP_001185981.1:p.Gly59Arg, XP_047290542.1:p.Gly59Arg

Select item 14439424815.

rs1443942481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205381813 (GRCh38)
1:205350941 (GRCh37)
Canonical SPDI:: NC_000001.11:205381812:T:C
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381813T>C, NC_000001.10:g.205350941T>C, NM_001001552.5:c.249A>G, NM_001001552.4:c.249A>G, XM_011510160.3:c.475A>G, XM_011510160.2:c.475A>G, XM_011510160.1:c.475A>G, XM_011510162.3:c.457A>G, XM_011510162.2:c.457A>G, XM_011510162.1:c.457A>G, XM_011510163.3:c.352A>G, XM_011510163.2:c.352A>G, XM_011510163.1:c.352A>G, NM_001199050.2:c.391A>G, NM_001199050.1:c.391A>G, NM_001199051.2:c.268A>G, NM_001199051.1:c.268A>G, NR_037583.2:n.308A>G, NR_037583.1:n.338A>G, NM_001199052.2:c.126A>G, NM_001199052.1:c.126A>G, XM_047434586.1:c.126A>G, XP_011508462.1:p.Ile159Val, XP_011508464.1:p.Ile153Val, XP_011508465.1:p.Ile118Val, NP_001185979.1:p.Ile131Val, NP_001185980.1:p.Ile90Val

Select item 14242057386.

rs1424205738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205419293 (GRCh38)
1:205388421 (GRCh37)
Canonical SPDI:: NC_000001.11:205419292:C:T
Gene:: LEMD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000001.11:g.205419293C>T, NC_000001.10:g.205388421C>T, NM_001001552.5:c.142G>A, NM_001001552.4:c.142G>A, XM_011510160.3:c.142G>A, XM_011510160.2:c.142G>A, XM_011510160.1:c.142G>A, XM_011510162.3:c.142G>A, XM_011510162.2:c.142G>A, XM_011510162.1:c.142G>A, NM_001199050.2:c.142G>A, NM_001199050.1:c.142G>A, NP_001001552.3:p.Ala48Thr, XP_011508462.1:p.Ala48Thr, XP_011508464.1:p.Ala48Thr, NP_001185979.1:p.Ala48Thr

Select item 14217625897.

rs1421762589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205419312 (GRCh38)
1:205388440 (GRCh37)
Canonical SPDI:: NC_000001.11:205419311:C:T
Gene:: LEMD1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205419312C>T, NC_000001.10:g.205388440C>T, NM_001001552.5:c.123G>A, NM_001001552.4:c.123G>A, XM_011510160.3:c.123G>A, XM_011510160.2:c.123G>A, XM_011510160.1:c.123G>A, XM_011510162.3:c.123G>A, XM_011510162.2:c.123G>A, XM_011510162.1:c.123G>A, NM_001199050.2:c.123G>A, NM_001199050.1:c.123G>A

Select item 14193749598.

rs1419374959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205381747 (GRCh38)
1:205350875 (GRCh37)
Canonical SPDI:: NC_000001.11:205381746:G:A
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381747G>A, NC_000001.10:g.205350875G>A, NM_001001552.5:c.315C>T, NM_001001552.4:c.315C>T, XM_011510160.3:c.541C>T, XM_011510160.2:c.541C>T, XM_011510160.1:c.541C>T, XM_011510162.3:c.523C>T, XM_011510162.2:c.523C>T, XM_011510162.1:c.523C>T, XM_011510163.3:c.418C>T, XM_011510163.2:c.418C>T, XM_011510163.1:c.418C>T, NM_001199050.2:c.457C>T, NM_001199050.1:c.457C>T, NM_001199051.2:c.334C>T, NM_001199051.1:c.334C>T, NR_037583.2:n.374C>T, NR_037583.1:n.404C>T, NM_001199052.2:c.192C>T, NM_001199052.1:c.192C>T, XM_047434586.1:c.192C>T, XP_011508462.1:p.Pro181Ser, XP_011508464.1:p.Pro175Ser, XP_011508465.1:p.Pro140Ser, NP_001185979.1:p.Pro153Ser, NP_001185980.1:p.Pro112Ser

Select item 14151532079.

rs1415153207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:205419294 (GRCh38)
1:205388422 (GRCh37)
Canonical SPDI:: NC_000001.11:205419293:A:T
Gene:: LEMD1 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205419294A>T, NC_000001.10:g.205388422A>T, NM_001001552.5:c.141T>A, NM_001001552.4:c.141T>A, XM_011510160.3:c.141T>A, XM_011510160.2:c.141T>A, XM_011510160.1:c.141T>A, XM_011510162.3:c.141T>A, XM_011510162.2:c.141T>A, XM_011510162.1:c.141T>A, NM_001199050.2:c.141T>A, NM_001199050.1:c.141T>A, NP_001001552.3:p.Cys47Ter, XP_011508462.1:p.Cys47Ter, XP_011508464.1:p.Cys47Ter, NP_001185979.1:p.Cys47Ter

Select item 139905149510.

rs1399051495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:205419296 (GRCh38)
1:205388424 (GRCh37)
Canonical SPDI:: NC_000001.11:205419295:A:T
Gene:: LEMD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.205419296A>T, NC_000001.10:g.205388424A>T, NM_001001552.5:c.139T>A, NM_001001552.4:c.139T>A, XM_011510160.3:c.139T>A, XM_011510160.2:c.139T>A, XM_011510160.1:c.139T>A, XM_011510162.3:c.139T>A, XM_011510162.2:c.139T>A, XM_011510162.1:c.139T>A, NM_001199050.2:c.139T>A, NM_001199050.1:c.139T>A, NP_001001552.3:p.Cys47Ser, XP_011508462.1:p.Cys47Ser, XP_011508464.1:p.Cys47Ser, NP_001185979.1:p.Cys47Ser

Select item 139287624711.

rs1392876247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205381797 (GRCh38)
1:205350925 (GRCh37)
Canonical SPDI:: NC_000001.11:205381796:T:C
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381797T>C, NC_000001.10:g.205350925T>C, NM_001001552.5:c.265A>G, NM_001001552.4:c.265A>G, XM_011510160.3:c.491A>G, XM_011510160.2:c.491A>G, XM_011510160.1:c.491A>G, XM_011510162.3:c.473A>G, XM_011510162.2:c.473A>G, XM_011510162.1:c.473A>G, XM_011510163.3:c.368A>G, XM_011510163.2:c.368A>G, XM_011510163.1:c.368A>G, NM_001199050.2:c.407A>G, NM_001199050.1:c.407A>G, NM_001199051.2:c.284A>G, NM_001199051.1:c.284A>G, NR_037583.2:n.324A>G, NR_037583.1:n.354A>G, NM_001199052.2:c.142A>G, NM_001199052.1:c.142A>G, XM_047434586.1:c.142A>G, NP_001001552.3:p.Thr89Ala, XP_011508462.1:p.Asp164Gly, XP_011508464.1:p.Asp158Gly, XP_011508465.1:p.Asp123Gly, NP_001185979.1:p.Asp136Gly, NP_001185980.1:p.Asp95Gly, NP_001185981.1:p.Thr48Ala, XP_047290542.1:p.Thr48Ala

Select item 138221440212.

rs1382214402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:205419325 (GRCh38)
1:205388453 (GRCh37)
Canonical SPDI:: NC_000001.11:205419324:T:A
Gene:: LEMD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205419325T>A, NC_000001.10:g.205388453T>A, NM_001001552.5:c.110A>T, NM_001001552.4:c.110A>T, XM_011510160.3:c.110A>T, XM_011510160.2:c.110A>T, XM_011510160.1:c.110A>T, XM_011510162.3:c.110A>T, XM_011510162.2:c.110A>T, XM_011510162.1:c.110A>T, NM_001199050.2:c.110A>T, NM_001199050.1:c.110A>T, NP_001001552.3:p.Lys37Met, XP_011508462.1:p.Lys37Met, XP_011508464.1:p.Lys37Met, NP_001185979.1:p.Lys37Met

Select item 137566362513.

rs1375663625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205381767 (GRCh38)
1:205350895 (GRCh37)
Canonical SPDI:: NC_000001.11:205381766:C:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381767C>T, NC_000001.10:g.205350895C>T, NM_001001552.5:c.295G>A, NM_001001552.4:c.295G>A, XM_011510160.3:c.521G>A, XM_011510160.2:c.521G>A, XM_011510160.1:c.521G>A, XM_011510162.3:c.503G>A, XM_011510162.2:c.503G>A, XM_011510162.1:c.503G>A, XM_011510163.3:c.398G>A, XM_011510163.2:c.398G>A, XM_011510163.1:c.398G>A, NM_001199050.2:c.437G>A, NM_001199050.1:c.437G>A, NM_001199051.2:c.314G>A, NM_001199051.1:c.314G>A, NR_037583.2:n.354G>A, NR_037583.1:n.384G>A, NM_001199052.2:c.172G>A, NM_001199052.1:c.172G>A, XM_047434586.1:c.172G>A, NP_001001552.3:p.Ala99Thr, XP_011508462.1:p.Ser174Asn, XP_011508464.1:p.Ser168Asn, XP_011508465.1:p.Ser133Asn, NP_001185979.1:p.Ser146Asn, NP_001185980.1:p.Ser105Asn, NP_001185981.1:p.Ala58Thr, XP_047290542.1:p.Ala58Thr

Select item 136613443014.

rs1366134430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205381761 (GRCh38)
1:205350889 (GRCh37)
Canonical SPDI:: NC_000001.11:205381760:C:T
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381761C>T, NC_000001.10:g.205350889C>T, NM_001001552.5:c.301G>A, NM_001001552.4:c.301G>A, XM_011510160.3:c.527G>A, XM_011510160.2:c.527G>A, XM_011510160.1:c.527G>A, XM_011510162.3:c.509G>A, XM_011510162.2:c.509G>A, XM_011510162.1:c.509G>A, XM_011510163.3:c.404G>A, XM_011510163.2:c.404G>A, XM_011510163.1:c.404G>A, NM_001199050.2:c.443G>A, NM_001199050.1:c.443G>A, NM_001199051.2:c.320G>A, NM_001199051.1:c.320G>A, NR_037583.2:n.360G>A, NR_037583.1:n.390G>A, NM_001199052.2:c.178G>A, NM_001199052.1:c.178G>A, XM_047434586.1:c.178G>A, NP_001001552.3:p.Glu101Lys, XP_011508462.1:p.Arg176Lys, XP_011508464.1:p.Arg170Lys, XP_011508465.1:p.Arg135Lys, NP_001185979.1:p.Arg148Lys, NP_001185980.1:p.Arg107Lys, NP_001185981.1:p.Glu60Lys, XP_047290542.1:p.Glu60Lys

Select item 136286560115.

rs1362865601 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTCACA>- [Show Flanks]
Chromosome:: 1:205420522 (GRCh38)
1:205389650 (GRCh37)
Canonical SPDI:: NC_000001.11:205420518:ACACTTCACA:ACA
Gene:: LEMD1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205420522_205420528del, NC_000001.10:g.205389650_205389656del, NM_001001552.5:c.12_18del, NM_001001552.4:c.12_18del, XM_011510160.3:c.12_18del, XM_011510160.2:c.12_18del, XM_011510160.1:c.12_18del, XM_011510162.3:c.12_18del, XM_011510162.2:c.12_18del, XM_011510162.1:c.12_18del, XM_011510163.3:c.12_18del, XM_011510163.2:c.12_18del, XM_011510163.1:c.12_18del, NM_001199050.2:c.12_18del, NM_001199050.1:c.12_18del, NM_001199051.2:c.12_18del, NM_001199051.1:c.12_18del, NR_037583.2:n.117_123del, NR_037583.1:n.147_153del, NM_001199052.2:c.12_18del, NM_001199052.1:c.12_18del, XM_047434586.1:c.12_18del, NP_001001552.3:p.Val4_Lys5insTer, XP_011508462.1:p.Val4_Lys5insTer, XP_011508464.1:p.Val4_Lys5insTer, XP_011508465.1:p.Val4_Lys5insTer, NP_001185979.1:p.Val4_Lys5insTer, NP_001185980.1:p.Val4_Lys5insTer, NP_001185981.1:p.Val4_Lys5insTer, XP_047290542.1:p.Val4_Lys5insTer

Select item 135554619116.

rs1355546191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:205381798 (GRCh38)
1:205350926 (GRCh37)
Canonical SPDI:: NC_000001.11:205381797:C:A
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205381798C>A, NC_000001.10:g.205350926C>A, NM_001001552.5:c.264G>T, NM_001001552.4:c.264G>T, XM_011510160.3:c.490G>T, XM_011510160.2:c.490G>T, XM_011510160.1:c.490G>T, XM_011510162.3:c.472G>T, XM_011510162.2:c.472G>T, XM_011510162.1:c.472G>T, XM_011510163.3:c.367G>T, XM_011510163.2:c.367G>T, XM_011510163.1:c.367G>T, NM_001199050.2:c.406G>T, NM_001199050.1:c.406G>T, NM_001199051.2:c.283G>T, NM_001199051.1:c.283G>T, NR_037583.2:n.323G>T, NR_037583.1:n.353G>T, NM_001199052.2:c.141G>T, NM_001199052.1:c.141G>T, XM_047434586.1:c.141G>T, NP_001001552.3:p.Glu88Asp, XP_011508462.1:p.Asp164Tyr, XP_011508464.1:p.Asp158Tyr, XP_011508465.1:p.Asp123Tyr, NP_001185979.1:p.Asp136Tyr, NP_001185980.1:p.Asp95Tyr, NP_001185981.1:p.Glu47Asp, XP_047290542.1:p.Glu47Asp

Select item 135204076417.

rs1352040764 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 1:205381758 (GRCh38)
1:205350886 (GRCh37)
Canonical SPDI:: NC_000001.11:205381752:CTTCTTCT:CTTCT
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCT=0.000142/2 (ALFA)
-=0.000012/3 (GnomAD_exomes)
-=0.000049/13 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000001.11:g.205381755TCT[1], NC_000001.10:g.205350883TCT[1], NM_001001552.5:c.304AAG[1], NM_001001552.4:c.304AAG[1], XM_011510160.3:c.530AAG[1], XM_011510160.2:c.530AAG[1], XM_011510160.1:c.530AAG[1], XM_011510162.3:c.512AAG[1], XM_011510162.2:c.512AAG[1], XM_011510162.1:c.512AAG[1], XM_011510163.3:c.407AAG[1], XM_011510163.2:c.407AAG[1], XM_011510163.1:c.407AAG[1], NM_001199050.2:c.446AAG[1], NM_001199050.1:c.446AAG[1], NM_001199051.2:c.323AAG[1], NM_001199051.1:c.323AAG[1], NR_037583.2:n.363AAG[1], NR_037583.1:n.393AAG[1], NM_001199052.2:c.181AAG[1], NM_001199052.1:c.181AAG[1], XM_047434586.1:c.181AAG[1], NP_001001552.3:p.Lys103del, XP_011508462.1:p.Glu178del, XP_011508464.1:p.Glu172del, XP_011508465.1:p.Glu137del, NP_001185979.1:p.Glu150del, NP_001185980.1:p.Glu109del, NP_001185981.1:p.Lys62del, XP_047290542.1:p.Lys62del

Select item 131925057318.

rs1319250573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205419274 (GRCh38)
1:205388402 (GRCh37)
Canonical SPDI:: NC_000001.11:205419273:C:T
Gene:: LEMD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205419274C>T, NC_000001.10:g.205388402C>T, NM_001001552.5:c.161G>A, NM_001001552.4:c.161G>A, XM_011510160.3:c.161G>A, XM_011510160.2:c.161G>A, XM_011510160.1:c.161G>A, XM_011510162.3:c.161G>A, XM_011510162.2:c.161G>A, XM_011510162.1:c.161G>A, NM_001199050.2:c.161G>A, NM_001199050.1:c.161G>A, NP_001001552.3:p.Gly54Glu, XP_011508462.1:p.Gly54Glu, XP_011508464.1:p.Gly54Glu, NP_001185979.1:p.Gly54Glu

Select item 131337399019.

rs1313373990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:205419329 (GRCh38)
1:205388457 (GRCh37)
Canonical SPDI:: NC_000001.11:205419328:T:G
Gene:: LEMD1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205419329T>G, NC_000001.10:g.205388457T>G, NM_001001552.5:c.106A>C, NM_001001552.4:c.106A>C, XM_011510160.3:c.106A>C, XM_011510160.2:c.106A>C, XM_011510160.1:c.106A>C, XM_011510162.3:c.106A>C, XM_011510162.2:c.106A>C, XM_011510162.1:c.106A>C, NM_001199050.2:c.106A>C, NM_001199050.1:c.106A>C, NP_001001552.3:p.Lys36Gln, XP_011508462.1:p.Lys36Gln, XP_011508464.1:p.Lys36Gln, NP_001185979.1:p.Lys36Gln

Select item 130940046220.

rs1309400462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205381766 (GRCh38)
1:205350894 (GRCh37)
Canonical SPDI:: NC_000001.11:205381765:G:A
Gene:: LEMD1 (Varview), LEMD1-AS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205381766G>A, NC_000001.10:g.205350894G>A, NM_001001552.5:c.296C>T, NM_001001552.4:c.296C>T, XM_011510160.3:c.522C>T, XM_011510160.2:c.522C>T, XM_011510160.1:c.522C>T, XM_011510162.3:c.504C>T, XM_011510162.2:c.504C>T, XM_011510162.1:c.504C>T, XM_011510163.3:c.399C>T, XM_011510163.2:c.399C>T, XM_011510163.1:c.399C>T, NM_001199050.2:c.438C>T, NM_001199050.1:c.438C>T, NM_001199051.2:c.315C>T, NM_001199051.1:c.315C>T, NR_037583.2:n.355C>T, NR_037583.1:n.385C>T, NM_001199052.2:c.173C>T, NM_001199052.1:c.173C>T, XM_047434586.1:c.173C>T, NP_001001552.3:p.Ala99Val, NP_001185981.1:p.Ala58Val, XP_047290542.1:p.Ala58Val

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