SNP Links for Protein (Select 1189438282) - SNP

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Links from Protein

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Select item 14879713691.

rs1487971369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:80512257 (GRCh38)
10:82272013 (GRCh37)
Canonical SPDI:: NC_000010.11:80512256:G:C
Gene:: TSPAN14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80512257G>C, NC_000010.10:g.82272013G>C, NM_001351267.4:c.564G>C, NM_001351267.3:c.564G>C, NM_001351267.2:c.564G>C, NM_001351267.1:c.564G>C, NM_030927.4:c.564G>C, NM_030927.3:c.564G>C, NM_030927.2:c.564G>C, NM_001128309.3:c.195G>C, NM_001128309.2:c.195G>C, NM_001128309.1:c.195G>C, NM_001351270.2:c.564G>C, NM_001351270.1:c.564G>C, NM_001351272.2:c.564G>C, NM_001351272.1:c.564G>C, NM_001351271.2:c.564G>C, NM_001351271.1:c.564G>C, NM_001351269.2:c.564G>C, NM_001351269.1:c.564G>C, NM_001351266.2:c.564G>C, NM_001351266.1:c.564G>C, NM_001351268.2:c.564G>C, NM_001351268.1:c.564G>C

Select item 14850073242.

rs1485007324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80504747 (GRCh38)
10:82264503 (GRCh37)
Canonical SPDI:: NC_000010.11:80504746:T:C
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80504747T>C, NC_000010.10:g.82264503T>C, NM_001351267.4:c.101T>C, NM_001351267.3:c.101T>C, NM_001351267.2:c.101T>C, NM_001351267.1:c.101T>C, NM_030927.4:c.101T>C, NM_030927.3:c.101T>C, NM_030927.2:c.101T>C, NM_001351270.2:c.101T>C, NM_001351270.1:c.101T>C, NM_001351272.2:c.101T>C, NM_001351272.1:c.101T>C, NM_001351271.2:c.101T>C, NM_001351271.1:c.101T>C, NM_001351269.2:c.101T>C, NM_001351269.1:c.101T>C, NM_001351266.2:c.101T>C, NM_001351266.1:c.101T>C, NM_001351268.2:c.101T>C, NM_001351268.1:c.101T>C, NP_001338196.1:p.Leu34Pro, NP_112189.2:p.Leu34Pro, NP_001338199.1:p.Leu34Pro, NP_001338201.1:p.Leu34Pro, NP_001338200.1:p.Leu34Pro, NP_001338198.1:p.Leu34Pro, NP_001338195.1:p.Leu34Pro, NP_001338197.1:p.Leu34Pro

Select item 14774092303.

rs1477409230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80516241 (GRCh38)
10:82275997 (GRCh37)
Canonical SPDI:: NC_000010.11:80516240:G:A
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80516241G>A, NC_000010.10:g.82275997G>A, NM_001351267.4:c.659G>A, NM_001351267.3:c.659G>A, NM_001351267.2:c.659G>A, NM_001351267.1:c.659G>A, NM_030927.4:c.659G>A, NM_030927.3:c.659G>A, NM_030927.2:c.659G>A, NM_001128309.3:c.290G>A, NM_001128309.2:c.290G>A, NM_001128309.1:c.290G>A, NM_001351270.2:c.659G>A, NM_001351270.1:c.659G>A, NM_001351272.2:c.659G>A, NM_001351272.1:c.659G>A, NM_001351271.2:c.659G>A, NM_001351271.1:c.659G>A, NM_001351269.2:c.659G>A, NM_001351269.1:c.659G>A, NM_001351266.2:c.659G>A, NM_001351266.1:c.659G>A, NM_001351268.2:c.659G>A, NM_001351268.1:c.659G>A, NP_001338196.1:p.Gly220Asp, NP_112189.2:p.Gly220Asp, NP_001121781.1:p.Gly97Asp, NP_001338199.1:p.Gly220Asp, NP_001338201.1:p.Gly220Asp, NP_001338200.1:p.Gly220Asp, NP_001338198.1:p.Gly220Asp, NP_001338195.1:p.Gly220Asp, NP_001338197.1:p.Gly220Asp

Select item 14754930244.

rs1475493024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80507368 (GRCh38)
10:82267124 (GRCh37)
Canonical SPDI:: NC_000010.11:80507367:C:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.80507368C>T, NC_000010.10:g.82267124C>T, NM_001351267.4:c.273C>T, NM_001351267.3:c.273C>T, NM_001351267.2:c.273C>T, NM_001351267.1:c.273C>T, NM_030927.4:c.273C>T, NM_030927.3:c.273C>T, NM_030927.2:c.273C>T, NM_001351270.2:c.273C>T, NM_001351270.1:c.273C>T, NM_001351272.2:c.273C>T, NM_001351272.1:c.273C>T, NM_001351271.2:c.273C>T, NM_001351271.1:c.273C>T, NM_001351269.2:c.273C>T, NM_001351269.1:c.273C>T, NM_001351266.2:c.273C>T, NM_001351266.1:c.273C>T, NM_001351268.2:c.273C>T, NM_001351268.1:c.273C>T

Select item 14735575405.

rs1473557540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:80507273 (GRCh38)
10:82267029 (GRCh37)
Canonical SPDI:: NC_000010.11:80507272:G:C
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80507273G>C, NC_000010.10:g.82267029G>C, NM_001351267.4:c.178G>C, NM_001351267.3:c.178G>C, NM_001351267.2:c.178G>C, NM_001351267.1:c.178G>C, NM_030927.4:c.178G>C, NM_030927.3:c.178G>C, NM_030927.2:c.178G>C, NM_001351270.2:c.178G>C, NM_001351270.1:c.178G>C, NM_001351272.2:c.178G>C, NM_001351272.1:c.178G>C, NM_001351271.2:c.178G>C, NM_001351271.1:c.178G>C, NM_001351269.2:c.178G>C, NM_001351269.1:c.178G>C, NM_001351266.2:c.178G>C, NM_001351266.1:c.178G>C, NM_001351268.2:c.178G>C, NM_001351268.1:c.178G>C, NP_001338196.1:p.Asp60His, NP_112189.2:p.Asp60His, NP_001338199.1:p.Asp60His, NP_001338201.1:p.Asp60His, NP_001338200.1:p.Asp60His, NP_001338198.1:p.Asp60His, NP_001338195.1:p.Asp60His, NP_001338197.1:p.Asp60His

Select item 14729208726.

rs1472920872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80517931 (GRCh38)
10:82277687 (GRCh37)
Canonical SPDI:: NC_000010.11:80517930:G:A
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80517931G>A, NC_000010.10:g.82277687G>A, NM_001351267.4:c.768G>A, NM_001351267.3:c.768G>A, NM_001351267.2:c.768G>A, NM_001351267.1:c.768G>A, NM_030927.4:c.768G>A, NM_030927.3:c.768G>A, NM_030927.2:c.768G>A, NM_001128309.3:c.399G>A, NM_001128309.2:c.399G>A, NM_001128309.1:c.399G>A, NM_001351270.2:c.768G>A, NM_001351270.1:c.768G>A, NM_001351272.2:c.768G>A, NM_001351272.1:c.768G>A, NM_001351271.2:c.768G>A, NM_001351271.1:c.768G>A, NM_001351269.2:c.768G>A, NM_001351269.1:c.768G>A, NM_001351266.2:c.768G>A, NM_001351266.1:c.768G>A, NM_001351268.2:c.768G>A, NM_001351268.1:c.768G>A

Select item 14725238397.

rs1472523839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:80489252 (GRCh38)
10:82249008 (GRCh37)
Canonical SPDI:: NC_000010.11:80489251:T:C,NC_000010.11:80489251:T:G
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80489252T>C, NC_000010.11:g.80489252T>G, NC_000010.10:g.82249008T>C, NC_000010.10:g.82249008T>G, NM_001351267.4:c.19T>C, NM_001351267.4:c.19T>G, NM_001351267.3:c.19T>C, NM_001351267.3:c.19T>G, NM_001351267.2:c.19T>C, NM_001351267.2:c.19T>G, NM_001351267.1:c.19T>C, NM_001351267.1:c.19T>G, NM_030927.4:c.19T>C, NM_030927.4:c.19T>G, NM_030927.3:c.19T>C, NM_030927.3:c.19T>G, NM_030927.2:c.19T>C, NM_030927.2:c.19T>G, NM_001128309.3:c.19T>C, NM_001128309.3:c.19T>G, NM_001128309.2:c.19T>C, NM_001128309.2:c.19T>G, NM_001128309.1:c.19T>C, NM_001128309.1:c.19T>G, NM_001351270.2:c.19T>C, NM_001351270.2:c.19T>G, NM_001351270.1:c.19T>C, NM_001351270.1:c.19T>G, NM_001351272.2:c.19T>C, NM_001351272.2:c.19T>G, NM_001351272.1:c.19T>C, NM_001351272.1:c.19T>G, NM_001351271.2:c.19T>C, NM_001351271.2:c.19T>G, NM_001351271.1:c.19T>C, NM_001351271.1:c.19T>G, NM_001351269.2:c.19T>C, NM_001351269.2:c.19T>G, NM_001351269.1:c.19T>C, NM_001351269.1:c.19T>G, NM_001351266.2:c.19T>C, NM_001351266.2:c.19T>G, NM_001351266.1:c.19T>C, NM_001351266.1:c.19T>G, NM_001351268.2:c.19T>C, NM_001351268.2:c.19T>G, NM_001351268.1:c.19T>C, NM_001351268.1:c.19T>G, NP_001338196.1:p.Ser7Pro, NP_001338196.1:p.Ser7Ala, NP_112189.2:p.Ser7Pro, NP_112189.2:p.Ser7Ala, NP_001121781.1:p.Ser7Pro, NP_001121781.1:p.Ser7Ala, NP_001338199.1:p.Ser7Pro, NP_001338199.1:p.Ser7Ala, NP_001338201.1:p.Ser7Pro, NP_001338201.1:p.Ser7Ala, NP_001338200.1:p.Ser7Pro, NP_001338200.1:p.Ser7Ala, NP_001338198.1:p.Ser7Pro, NP_001338198.1:p.Ser7Ala, NP_001338195.1:p.Ser7Pro, NP_001338195.1:p.Ser7Ala, NP_001338197.1:p.Ser7Pro, NP_001338197.1:p.Ser7Ala

Select item 14606265878.

rs1460626587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:80516322 (GRCh38)
10:82276078 (GRCh37)
Canonical SPDI:: NC_000010.11:80516321:A:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80516322A>T, NC_000010.10:g.82276078A>T, NM_001351267.4:c.740A>T, NM_001351267.3:c.740A>T, NM_001351267.2:c.740A>T, NM_001351267.1:c.740A>T, NM_030927.4:c.740A>T, NM_030927.3:c.740A>T, NM_030927.2:c.740A>T, NM_001128309.3:c.371A>T, NM_001128309.2:c.371A>T, NM_001128309.1:c.371A>T, NM_001351270.2:c.740A>T, NM_001351270.1:c.740A>T, NM_001351272.2:c.740A>T, NM_001351272.1:c.740A>T, NM_001351271.2:c.740A>T, NM_001351271.1:c.740A>T, NM_001351269.2:c.740A>T, NM_001351269.1:c.740A>T, NM_001351266.2:c.740A>T, NM_001351266.1:c.740A>T, NM_001351268.2:c.740A>T, NM_001351268.1:c.740A>T, NP_001338196.1:p.Gln247Leu, NP_112189.2:p.Gln247Leu, NP_001121781.1:p.Gln124Leu, NP_001338199.1:p.Gln247Leu, NP_001338201.1:p.Gln247Leu, NP_001338200.1:p.Gln247Leu, NP_001338198.1:p.Gln247Leu, NP_001338195.1:p.Gln247Leu, NP_001338197.1:p.Gln247Leu

Select item 14416971629.

rs1441697162 [Homo sapiens]

Variant type:: DEL
Alleles:: GTCC>- [Show Flanks]
Chromosome:: 10:80512237 (GRCh38)
10:82271993 (GRCh37)
Canonical SPDI:: NC_000010.11:80512236:GTCC:
Gene:: TSPAN14 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.80512237_80512240del, NC_000010.10:g.82271993_82271996del, NM_001351267.4:c.544_547del, NM_001351267.3:c.544_547del, NM_001351267.2:c.544_547del, NM_001351267.1:c.544_547del, NM_030927.4:c.544_547del, NM_030927.3:c.544_547del, NM_030927.2:c.544_547del, NM_001128309.3:c.175_178del, NM_001128309.2:c.175_178del, NM_001128309.1:c.175_178del, NM_001351270.2:c.544_547del, NM_001351270.1:c.544_547del, NM_001351272.2:c.544_547del, NM_001351272.1:c.544_547del, NM_001351271.2:c.544_547del, NM_001351271.1:c.544_547del, NM_001351269.2:c.544_547del, NM_001351269.1:c.544_547del, NM_001351266.2:c.544_547del, NM_001351266.1:c.544_547del, NM_001351268.2:c.544_547del, NM_001351268.1:c.544_547del, NP_001338196.1:p.Val182fs, NP_112189.2:p.Val182fs, NP_001121781.1:p.Val59fs, NP_001338199.1:p.Val182fs, NP_001338201.1:p.Val182fs, NP_001338200.1:p.Val182fs, NP_001338198.1:p.Val182fs, NP_001338195.1:p.Val182fs, NP_001338197.1:p.Val182fs

Select item 143875013910.

rs1438750139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:80489244 (GRCh38)
10:82249000 (GRCh37)
Canonical SPDI:: NC_000010.11:80489243:A:G,NC_000010.11:80489243:A:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80489244A>G, NC_000010.11:g.80489244A>T, NC_000010.10:g.82249000A>G, NC_000010.10:g.82249000A>T, NM_001351267.4:c.11A>G, NM_001351267.4:c.11A>T, NM_001351267.3:c.11A>G, NM_001351267.3:c.11A>T, NM_001351267.2:c.11A>G, NM_001351267.2:c.11A>T, NM_001351267.1:c.11A>G, NM_001351267.1:c.11A>T, NM_030927.4:c.11A>G, NM_030927.4:c.11A>T, NM_030927.3:c.11A>G, NM_030927.3:c.11A>T, NM_030927.2:c.11A>G, NM_030927.2:c.11A>T, NM_001128309.3:c.11A>G, NM_001128309.3:c.11A>T, NM_001128309.2:c.11A>G, NM_001128309.2:c.11A>T, NM_001128309.1:c.11A>G, NM_001128309.1:c.11A>T, NM_001351270.2:c.11A>G, NM_001351270.2:c.11A>T, NM_001351270.1:c.11A>G, NM_001351270.1:c.11A>T, NM_001351272.2:c.11A>G, NM_001351272.2:c.11A>T, NM_001351272.1:c.11A>G, NM_001351272.1:c.11A>T, NM_001351271.2:c.11A>G, NM_001351271.2:c.11A>T, NM_001351271.1:c.11A>G, NM_001351271.1:c.11A>T, NM_001351269.2:c.11A>G, NM_001351269.2:c.11A>T, NM_001351269.1:c.11A>G, NM_001351269.1:c.11A>T, NM_001351266.2:c.11A>G, NM_001351266.2:c.11A>T, NM_001351266.1:c.11A>G, NM_001351266.1:c.11A>T, NM_001351268.2:c.11A>G, NM_001351268.2:c.11A>T, NM_001351268.1:c.11A>G, NM_001351268.1:c.11A>T, NP_001338196.1:p.Tyr4Cys, NP_001338196.1:p.Tyr4Phe, NP_112189.2:p.Tyr4Cys, NP_112189.2:p.Tyr4Phe, NP_001121781.1:p.Tyr4Cys, NP_001121781.1:p.Tyr4Phe, NP_001338199.1:p.Tyr4Cys, NP_001338199.1:p.Tyr4Phe, NP_001338201.1:p.Tyr4Cys, NP_001338201.1:p.Tyr4Phe, NP_001338200.1:p.Tyr4Cys, NP_001338200.1:p.Tyr4Phe, NP_001338198.1:p.Tyr4Cys, NP_001338198.1:p.Tyr4Phe, NP_001338195.1:p.Tyr4Cys, NP_001338195.1:p.Tyr4Phe, NP_001338197.1:p.Tyr4Cys, NP_001338197.1:p.Tyr4Phe

Select item 142870472911.

rs1428704729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80517930 (GRCh38)
10:82277686 (GRCh37)
Canonical SPDI:: NC_000010.11:80517929:C:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.80517930C>T, NC_000010.10:g.82277686C>T, NM_001351267.4:c.767C>T, NM_001351267.3:c.767C>T, NM_001351267.2:c.767C>T, NM_001351267.1:c.767C>T, NM_030927.4:c.767C>T, NM_030927.3:c.767C>T, NM_030927.2:c.767C>T, NM_001128309.3:c.398C>T, NM_001128309.2:c.398C>T, NM_001128309.1:c.398C>T, NM_001351270.2:c.767C>T, NM_001351270.1:c.767C>T, NM_001351272.2:c.767C>T, NM_001351272.1:c.767C>T, NM_001351271.2:c.767C>T, NM_001351271.1:c.767C>T, NM_001351269.2:c.767C>T, NM_001351269.1:c.767C>T, NM_001351266.2:c.767C>T, NM_001351266.1:c.767C>T, NM_001351268.2:c.767C>T, NM_001351268.1:c.767C>T, NP_001338196.1:p.Thr256Met, NP_112189.2:p.Thr256Met, NP_001121781.1:p.Thr133Met, NP_001338199.1:p.Thr256Met, NP_001338201.1:p.Thr256Met, NP_001338200.1:p.Thr256Met, NP_001338198.1:p.Thr256Met, NP_001338195.1:p.Thr256Met, NP_001338197.1:p.Thr256Met

Select item 142791319412.

rs1427913194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:80509453 (GRCh38)
10:82269209 (GRCh37)
Canonical SPDI:: NC_000010.11:80509452:C:G,NC_000010.11:80509452:C:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80509453C>G, NC_000010.11:g.80509453C>T, NC_000010.10:g.82269209C>G, NC_000010.10:g.82269209C>T, NM_001351267.4:c.432C>G, NM_001351267.4:c.432C>T, NM_001351267.3:c.432C>G, NM_001351267.3:c.432C>T, NM_001351267.2:c.432C>G, NM_001351267.2:c.432C>T, NM_001351267.1:c.432C>G, NM_001351267.1:c.432C>T, NM_030927.4:c.432C>G, NM_030927.4:c.432C>T, NM_030927.3:c.432C>G, NM_030927.3:c.432C>T, NM_030927.2:c.432C>G, NM_030927.2:c.432C>T, NM_001351270.2:c.432C>G, NM_001351270.2:c.432C>T, NM_001351270.1:c.432C>G, NM_001351270.1:c.432C>T, NM_001351272.2:c.432C>G, NM_001351272.2:c.432C>T, NM_001351272.1:c.432C>G, NM_001351272.1:c.432C>T, NM_001351271.2:c.432C>G, NM_001351271.2:c.432C>T, NM_001351271.1:c.432C>G, NM_001351271.1:c.432C>T, NM_001351269.2:c.432C>G, NM_001351269.2:c.432C>T, NM_001351269.1:c.432C>G, NM_001351269.1:c.432C>T, NM_001351266.2:c.432C>G, NM_001351266.2:c.432C>T, NM_001351266.1:c.432C>G, NM_001351266.1:c.432C>T, NM_001351268.2:c.432C>G, NM_001351268.2:c.432C>T, NM_001351268.1:c.432C>G, NM_001351268.1:c.432C>T, NP_001338196.1:p.Ile144Met, NP_112189.2:p.Ile144Met, NP_001338199.1:p.Ile144Met, NP_001338201.1:p.Ile144Met, NP_001338200.1:p.Ile144Met, NP_001338198.1:p.Ile144Met, NP_001338195.1:p.Ile144Met, NP_001338197.1:p.Ile144Met

Select item 142443575313.

rs1424435753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:80512243 (GRCh38)
10:82271999 (GRCh37)
Canonical SPDI:: NC_000010.11:80512242:T:A
Gene:: TSPAN14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80512243T>A, NC_000010.10:g.82271999T>A, NM_001351267.4:c.550T>A, NM_001351267.3:c.550T>A, NM_001351267.2:c.550T>A, NM_001351267.1:c.550T>A, NM_030927.4:c.550T>A, NM_030927.3:c.550T>A, NM_030927.2:c.550T>A, NM_001128309.3:c.181T>A, NM_001128309.2:c.181T>A, NM_001128309.1:c.181T>A, NM_001351270.2:c.550T>A, NM_001351270.1:c.550T>A, NM_001351272.2:c.550T>A, NM_001351272.1:c.550T>A, NM_001351271.2:c.550T>A, NM_001351271.1:c.550T>A, NM_001351269.2:c.550T>A, NM_001351269.1:c.550T>A, NM_001351266.2:c.550T>A, NM_001351266.1:c.550T>A, NM_001351268.2:c.550T>A, NM_001351268.1:c.550T>A, NP_001338196.1:p.Phe184Ile, NP_112189.2:p.Phe184Ile, NP_001121781.1:p.Phe61Ile, NP_001338199.1:p.Phe184Ile, NP_001338201.1:p.Phe184Ile, NP_001338200.1:p.Phe184Ile, NP_001338198.1:p.Phe184Ile, NP_001338195.1:p.Phe184Ile, NP_001338197.1:p.Phe184Ile

Select item 142061599514.

rs1420615995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80507250 (GRCh38)
10:82267006 (GRCh37)
Canonical SPDI:: NC_000010.11:80507249:A:G
Gene:: TSPAN14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000010.11:g.80507250A>G, NC_000010.10:g.82267006A>G, NM_001351267.4:c.155A>G, NM_001351267.3:c.155A>G, NM_001351267.2:c.155A>G, NM_001351267.1:c.155A>G, NM_030927.4:c.155A>G, NM_030927.3:c.155A>G, NM_030927.2:c.155A>G, NM_001351270.2:c.155A>G, NM_001351270.1:c.155A>G, NM_001351272.2:c.155A>G, NM_001351272.1:c.155A>G, NM_001351271.2:c.155A>G, NM_001351271.1:c.155A>G, NM_001351269.2:c.155A>G, NM_001351269.1:c.155A>G, NM_001351266.2:c.155A>G, NM_001351266.1:c.155A>G, NM_001351268.2:c.155A>G, NM_001351268.1:c.155A>G, NP_001338196.1:p.Lys52Arg, NP_112189.2:p.Lys52Arg, NP_001338199.1:p.Lys52Arg, NP_001338201.1:p.Lys52Arg, NP_001338200.1:p.Lys52Arg, NP_001338198.1:p.Lys52Arg, NP_001338195.1:p.Lys52Arg, NP_001338197.1:p.Lys52Arg

Select item 141417065515.

rs1414170655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80509448 (GRCh38)
10:82269204 (GRCh37)
Canonical SPDI:: NC_000010.11:80509447:C:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.80509448C>T, NC_000010.10:g.82269204C>T, NM_001351267.4:c.427C>T, NM_001351267.3:c.427C>T, NM_001351267.2:c.427C>T, NM_001351267.1:c.427C>T, NM_030927.4:c.427C>T, NM_030927.3:c.427C>T, NM_030927.2:c.427C>T, NM_001351270.2:c.427C>T, NM_001351270.1:c.427C>T, NM_001351272.2:c.427C>T, NM_001351272.1:c.427C>T, NM_001351271.2:c.427C>T, NM_001351271.1:c.427C>T, NM_001351269.2:c.427C>T, NM_001351269.1:c.427C>T, NM_001351266.2:c.427C>T, NM_001351266.1:c.427C>T, NM_001351268.2:c.427C>T, NM_001351268.1:c.427C>T, NP_001338196.1:p.Leu143Phe, NP_112189.2:p.Leu143Phe, NP_001338199.1:p.Leu143Phe, NP_001338201.1:p.Leu143Phe, NP_001338200.1:p.Leu143Phe, NP_001338198.1:p.Leu143Phe, NP_001338195.1:p.Leu143Phe, NP_001338197.1:p.Leu143Phe

Select item 140987735816.

rs1409877358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80509460 (GRCh38)
10:82269216 (GRCh37)
Canonical SPDI:: NC_000010.11:80509459:C:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80509460C>T, NC_000010.10:g.82269216C>T, NM_001351267.4:c.439C>T, NM_001351267.3:c.439C>T, NM_001351267.2:c.439C>T, NM_001351267.1:c.439C>T, NM_030927.4:c.439C>T, NM_030927.3:c.439C>T, NM_030927.2:c.439C>T, NM_001351270.2:c.439C>T, NM_001351270.1:c.439C>T, NM_001351272.2:c.439C>T, NM_001351272.1:c.439C>T, NM_001351271.2:c.439C>T, NM_001351271.1:c.439C>T, NM_001351269.2:c.439C>T, NM_001351269.1:c.439C>T, NM_001351266.2:c.439C>T, NM_001351266.1:c.439C>T, NM_001351268.2:c.439C>T, NM_001351268.1:c.439C>T, NP_001338196.1:p.Leu147Phe, NP_112189.2:p.Leu147Phe, NP_001338199.1:p.Leu147Phe, NP_001338201.1:p.Leu147Phe, NP_001338200.1:p.Leu147Phe, NP_001338198.1:p.Leu147Phe, NP_001338195.1:p.Leu147Phe, NP_001338197.1:p.Leu147Phe

Select item 140879971317.

rs1408799713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80489251 (GRCh38)
10:82249007 (GRCh37)
Canonical SPDI:: NC_000010.11:80489250:C:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80489251C>T, NC_000010.10:g.82249007C>T, NM_001351267.4:c.18C>T, NM_001351267.3:c.18C>T, NM_001351267.2:c.18C>T, NM_001351267.1:c.18C>T, NM_030927.4:c.18C>T, NM_030927.3:c.18C>T, NM_030927.2:c.18C>T, NM_001128309.3:c.18C>T, NM_001128309.2:c.18C>T, NM_001128309.1:c.18C>T, NM_001351270.2:c.18C>T, NM_001351270.1:c.18C>T, NM_001351272.2:c.18C>T, NM_001351272.1:c.18C>T, NM_001351271.2:c.18C>T, NM_001351271.1:c.18C>T, NM_001351269.2:c.18C>T, NM_001351269.1:c.18C>T, NM_001351266.2:c.18C>T, NM_001351266.1:c.18C>T, NM_001351268.2:c.18C>T, NM_001351268.1:c.18C>T

Select item 139746996818.

rs1397469968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:80509449 (GRCh38)
10:82269205 (GRCh37)
Canonical SPDI:: NC_000010.11:80509448:T:G
Gene:: TSPAN14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80509449T>G, NC_000010.10:g.82269205T>G, NM_001351267.4:c.428T>G, NM_001351267.3:c.428T>G, NM_001351267.2:c.428T>G, NM_001351267.1:c.428T>G, NM_030927.4:c.428T>G, NM_030927.3:c.428T>G, NM_030927.2:c.428T>G, NM_001351270.2:c.428T>G, NM_001351270.1:c.428T>G, NM_001351272.2:c.428T>G, NM_001351272.1:c.428T>G, NM_001351271.2:c.428T>G, NM_001351271.1:c.428T>G, NM_001351269.2:c.428T>G, NM_001351269.1:c.428T>G, NM_001351266.2:c.428T>G, NM_001351266.1:c.428T>G, NM_001351268.2:c.428T>G, NM_001351268.1:c.428T>G, NP_001338196.1:p.Leu143Arg, NP_112189.2:p.Leu143Arg, NP_001338199.1:p.Leu143Arg, NP_001338201.1:p.Leu143Arg, NP_001338200.1:p.Leu143Arg, NP_001338198.1:p.Leu143Arg, NP_001338195.1:p.Leu143Arg, NP_001338197.1:p.Leu143Arg

Select item 139372305019.

rs1393723050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80512229 (GRCh38)
10:82271985 (GRCh37)
Canonical SPDI:: NC_000010.11:80512228:A:G
Gene:: TSPAN14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80512229A>G, NC_000010.10:g.82271985A>G, NM_001351267.4:c.536A>G, NM_001351267.3:c.536A>G, NM_001351267.2:c.536A>G, NM_001351267.1:c.536A>G, NM_030927.4:c.536A>G, NM_030927.3:c.536A>G, NM_030927.2:c.536A>G, NM_001128309.3:c.167A>G, NM_001128309.2:c.167A>G, NM_001128309.1:c.167A>G, NM_001351270.2:c.536A>G, NM_001351270.1:c.536A>G, NM_001351272.2:c.536A>G, NM_001351272.1:c.536A>G, NM_001351271.2:c.536A>G, NM_001351271.1:c.536A>G, NM_001351269.2:c.536A>G, NM_001351269.1:c.536A>G, NM_001351266.2:c.536A>G, NM_001351266.1:c.536A>G, NM_001351268.2:c.536A>G, NM_001351268.1:c.536A>G, NP_001338196.1:p.Lys179Arg, NP_112189.2:p.Lys179Arg, NP_001121781.1:p.Lys56Arg, NP_001338199.1:p.Lys179Arg, NP_001338201.1:p.Lys179Arg, NP_001338200.1:p.Lys179Arg, NP_001338198.1:p.Lys179Arg, NP_001338195.1:p.Lys179Arg, NP_001338197.1:p.Lys179Arg

Select item 136588005720.

rs1365880057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:80514045 (GRCh38)
10:82273801 (GRCh37)
Canonical SPDI:: NC_000010.11:80514044:A:T
Gene:: TSPAN14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.80514045A>T, NC_000010.10:g.82273801A>T, NM_001351267.4:c.603A>T, NM_001351267.3:c.603A>T, NM_001351267.2:c.603A>T, NM_001351267.1:c.603A>T, NM_030927.4:c.603A>T, NM_030927.3:c.603A>T, NM_030927.2:c.603A>T, NM_001128309.3:c.234A>T, NM_001128309.2:c.234A>T, NM_001128309.1:c.234A>T, NM_001351270.2:c.603A>T, NM_001351270.1:c.603A>T, NM_001351272.2:c.603A>T, NM_001351272.1:c.603A>T, NM_001351271.2:c.603A>T, NM_001351271.1:c.603A>T, NM_001351269.2:c.603A>T, NM_001351269.1:c.603A>T, NM_001351266.2:c.603A>T, NM_001351266.1:c.603A>T, NM_001351268.2:c.603A>T, NM_001351268.1:c.603A>T

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