SNP Links for Protein (Select 767976971) - SNP

Links from Protein

Items: 1 to 20 of 157

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Select item 14909129191.

rs1490912919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:132604477 (GRCh38)
12:133181063 (GRCh37)
Canonical SPDI:: NC_000012.12:132604476:A:G
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604477A>G, NC_000012.11:g.133181063A>G, XM_011534780.3:c.339T>C, XM_011534780.2:c.339T>C, XM_011534780.1:c.339T>C, XM_011534785.2:c.183T>C, XM_011534785.1:c.183T>C, XM_011534784.2:c.183T>C, XM_011534784.1:c.183T>C, NM_001195520.2:c.339T>C, NM_001195520.1:c.339T>C, XM_047428044.1:c.183T>C, XM_047428045.1:c.183T>C, XM_047428046.1:c.183T>C

Select item 14707349922.

rs1470734992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132604483 (GRCh38)
12:133181069 (GRCh37)
Canonical SPDI:: NC_000012.12:132604482:C:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604483C>T, NC_000012.11:g.133181069C>T, XM_011534780.3:c.333G>A, XM_011534780.2:c.333G>A, XM_011534780.1:c.333G>A, XM_011534785.2:c.177G>A, XM_011534785.1:c.177G>A, XM_011534784.2:c.177G>A, XM_011534784.1:c.177G>A, NM_001195520.2:c.333G>A, NM_001195520.1:c.333G>A, XM_047428044.1:c.177G>A, XM_047428045.1:c.177G>A, XM_047428046.1:c.177G>A

Select item 14625030233.

rs1462503023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132604307 (GRCh38)
12:133180893 (GRCh37)
Canonical SPDI:: NC_000012.12:132604306:T:C
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604307T>C, NC_000012.11:g.133180893T>C, XM_011534780.3:c.424A>G, XM_011534780.2:c.424A>G, XM_011534780.1:c.424A>G, XM_011534785.2:c.268A>G, XM_011534785.1:c.268A>G, XM_011534784.2:c.268A>G, XM_011534784.1:c.268A>G, NM_001195520.2:c.424A>G, NM_001195520.1:c.424A>G, XM_047428044.1:c.268A>G, XM_047428045.1:c.268A>G, XM_047428046.1:c.268A>G, XP_011533082.1:p.Ser142Gly, XP_011533087.1:p.Ser90Gly, XP_011533086.1:p.Ser90Gly, NP_001182449.1:p.Ser142Gly, XP_047284000.1:p.Ser90Gly, XP_047284001.1:p.Ser90Gly, XP_047284002.1:p.Ser90Gly

Select item 14550082264.

rs1455008226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132604281 (GRCh38)
12:133180867 (GRCh37)
Canonical SPDI:: NC_000012.12:132604280:G:A
Gene:: LRCOL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000031/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604281G>A, NC_000012.11:g.133180867G>A, XM_011534780.3:c.450C>T, XM_011534780.2:c.450C>T, XM_011534780.1:c.450C>T, XM_011534785.2:c.294C>T, XM_011534785.1:c.294C>T, XM_011534784.2:c.294C>T, XM_011534784.1:c.294C>T, NM_001195520.2:c.450C>T, NM_001195520.1:c.450C>T, XM_047428044.1:c.294C>T, XM_047428045.1:c.294C>T, XM_047428046.1:c.294C>T

Select item 14495222535.

rs1449522253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132604174 (GRCh38)
12:133180760 (GRCh37)
Canonical SPDI:: NC_000012.12:132604173:T:C
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.132604174T>C, NC_000012.11:g.133180760T>C, XM_011534780.3:c.557A>G, XM_011534780.2:c.557A>G, XM_011534780.1:c.557A>G, XM_011534785.2:c.401A>G, XM_011534785.1:c.401A>G, XM_011534784.2:c.401A>G, XM_011534784.1:c.401A>G, XM_047428044.1:c.401A>G, XM_047428045.1:c.401A>G, XP_011533082.1:p.Asp186Gly, XP_011533087.1:p.Asp134Gly, XP_011533086.1:p.Asp134Gly, XP_047284000.1:p.Asp134Gly, XP_047284001.1:p.Asp134Gly

Select item 14489270986.

rs1448927098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132604317 (GRCh38)
12:133180903 (GRCh37)
Canonical SPDI:: NC_000012.12:132604316:C:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604317C>T, NC_000012.11:g.133180903C>T, XM_011534780.3:c.414G>A, XM_011534780.2:c.414G>A, XM_011534780.1:c.414G>A, XM_011534785.2:c.258G>A, XM_011534785.1:c.258G>A, XM_011534784.2:c.258G>A, XM_011534784.1:c.258G>A, NM_001195520.2:c.414G>A, NM_001195520.1:c.414G>A, XM_047428044.1:c.258G>A, XM_047428045.1:c.258G>A, XM_047428046.1:c.258G>A

Select item 14464126387.

rs1446412638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:132604247 (GRCh38)
12:133180833 (GRCh37)
Canonical SPDI:: NC_000012.12:132604246:G:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604247G>T, NC_000012.11:g.133180833G>T, XM_011534780.3:c.484C>A, XM_011534780.2:c.484C>A, XM_011534780.1:c.484C>A, XM_011534785.2:c.328C>A, XM_011534785.1:c.328C>A, XM_011534784.2:c.328C>A, XM_011534784.1:c.328C>A, XM_047428044.1:c.328C>A, XM_047428045.1:c.328C>A, XP_011533082.1:p.Pro162Thr, XP_011533087.1:p.Pro110Thr, XP_011533086.1:p.Pro110Thr, XP_047284000.1:p.Pro110Thr, XP_047284001.1:p.Pro110Thr

Select item 14462774638.

rs1446277463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:132604269 (GRCh38)
12:133180855 (GRCh37)
Canonical SPDI:: NC_000012.12:132604268:G:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604269G>T, NC_000012.11:g.133180855G>T, XM_011534780.3:c.462C>A, XM_011534780.2:c.462C>A, XM_011534780.1:c.462C>A, XM_011534785.2:c.306C>A, XM_011534785.1:c.306C>A, XM_011534784.2:c.306C>A, XM_011534784.1:c.306C>A, NM_001195520.2:c.462C>A, NM_001195520.1:c.462C>A, XM_047428044.1:c.306C>A, XM_047428045.1:c.306C>A, XM_047428046.1:c.306C>A

Select item 14391759639.

rs1439175963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:132604505 (GRCh38)
12:133181091 (GRCh37)
Canonical SPDI:: NC_000012.12:132604504:C:G
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.132604505C>G, NC_000012.11:g.133181091C>G, XM_011534780.3:c.311G>C, XM_011534780.2:c.311G>C, XM_011534780.1:c.311G>C, XM_011534785.2:c.155G>C, XM_011534785.1:c.155G>C, XM_011534784.2:c.155G>C, XM_011534784.1:c.155G>C, NM_001195520.2:c.311G>C, NM_001195520.1:c.311G>C, XM_047428044.1:c.155G>C, XM_047428045.1:c.155G>C, XM_047428046.1:c.155G>C, XP_011533082.1:p.Cys104Ser, XP_011533087.1:p.Cys52Ser, XP_011533086.1:p.Cys52Ser, NP_001182449.1:p.Cys104Ser, XP_047284000.1:p.Cys52Ser, XP_047284001.1:p.Cys52Ser, XP_047284002.1:p.Cys52Ser

Select item 143738719410.

rs1437387194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132604140 (GRCh38)
12:133180726 (GRCh37)
Canonical SPDI:: NC_000012.12:132604139:G:A
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.132604140G>A, NC_000012.11:g.133180726G>A, XM_011534780.3:c.591C>T, XM_011534780.2:c.591C>T, XM_011534780.1:c.591C>T, XM_011534785.2:c.435C>T, XM_011534785.1:c.435C>T, XM_011534784.2:c.435C>T, XM_011534784.1:c.435C>T, XM_047428044.1:c.435C>T, XM_047428045.1:c.435C>T

Select item 143649037411.

rs1436490374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132604893 (GRCh38)
12:133181479 (GRCh37)
Canonical SPDI:: NC_000012.12:132604892:C:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.132604893C>T, NC_000012.11:g.133181479C>T, XM_011534785.2:c.42G>A, XM_011534785.1:c.42G>A, XM_011534784.2:c.42G>A, XM_011534784.1:c.42G>A, XM_047428044.1:c.42G>A, XM_047428045.1:c.42G>A, XM_047428046.1:c.42G>A

Select item 143587532312.

rs1435875323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132604550 (GRCh38)
12:133181136 (GRCh37)
Canonical SPDI:: NC_000012.12:132604549:C:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: missense_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_000012.12:g.132604550C>T, NC_000012.11:g.133181136C>T, XM_011534780.3:c.266G>A, XM_011534780.2:c.266G>A, XM_011534780.1:c.266G>A, XM_011534785.2:c.110G>A, XM_011534785.1:c.110G>A, XM_011534784.2:c.110G>A, XM_011534784.1:c.110G>A, NM_001195520.2:c.266G>A, NM_001195520.1:c.266G>A, XM_047428044.1:c.110G>A, XM_047428045.1:c.110G>A, XM_047428046.1:c.110G>A, XP_011533082.1:p.Cys89Tyr, XP_011533087.1:p.Cys37Tyr, XP_011533086.1:p.Cys37Tyr, NP_001182449.1:p.Cys89Tyr, XP_047284000.1:p.Cys37Tyr, XP_047284001.1:p.Cys37Tyr, XP_047284002.1:p.Cys37Tyr

Select item 143517887913.

rs1435178879 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:132604348 (GRCh38)
12:133180934 (GRCh37)
Canonical SPDI:: NC_000012.12:132604347:T:C
Gene:: LRCOL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604348T>C, NC_000012.11:g.133180934T>C, XM_011534780.3:c.383A>G, XM_011534780.2:c.383A>G, XM_011534780.1:c.383A>G, XM_011534785.2:c.227A>G, XM_011534785.1:c.227A>G, XM_011534784.2:c.227A>G, XM_011534784.1:c.227A>G, NM_001195520.2:c.383A>G, NM_001195520.1:c.383A>G, XM_047428044.1:c.227A>G, XM_047428045.1:c.227A>G, XM_047428046.1:c.227A>G, XP_011533082.1:p.Gln128Arg, XP_011533087.1:p.Gln76Arg, XP_011533086.1:p.Gln76Arg, NP_001182449.1:p.Gln128Arg, XP_047284000.1:p.Gln76Arg, XP_047284001.1:p.Gln76Arg, XP_047284002.1:p.Gln76Arg

Select item 142919222414.

rs1429192224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132604257 (GRCh38)
12:133180843 (GRCh37)
Canonical SPDI:: NC_000012.12:132604256:G:A
Gene:: LRCOL1 (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_000012.12:g.132604257G>A, NC_000012.11:g.133180843G>A, XM_011534780.3:c.474C>T, XM_011534780.2:c.474C>T, XM_011534780.1:c.474C>T, XM_011534785.2:c.318C>T, XM_011534785.1:c.318C>T, XM_011534784.2:c.318C>T, XM_011534784.1:c.318C>T, NM_001195520.2:c.474C>T, NM_001195520.1:c.474C>T, XM_047428044.1:c.318C>T, XM_047428045.1:c.318C>T, XM_047428046.1:c.318C>T

Select item 142712436715.

rs1427124367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:132604507 (GRCh38)
12:133181093 (GRCh37)
Canonical SPDI:: NC_000012.12:132604506:C:G
Gene:: LRCOL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.132604507C>G, NC_000012.11:g.133181093C>G, XM_011534780.3:c.309G>C, XM_011534780.2:c.309G>C, XM_011534780.1:c.309G>C, XM_011534785.2:c.153G>C, XM_011534785.1:c.153G>C, XM_011534784.2:c.153G>C, XM_011534784.1:c.153G>C, NM_001195520.2:c.309G>C, NM_001195520.1:c.309G>C, XM_047428044.1:c.153G>C, XM_047428045.1:c.153G>C, XM_047428046.1:c.153G>C, XP_011533082.1:p.Leu103Phe, XP_011533087.1:p.Leu51Phe, XP_011533086.1:p.Leu51Phe, NP_001182449.1:p.Leu103Phe, XP_047284000.1:p.Leu51Phe, XP_047284001.1:p.Leu51Phe, XP_047284002.1:p.Leu51Phe

Select item 142306586016.

rs1423065860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:132604202 (GRCh38)
12:133180788 (GRCh37)
Canonical SPDI:: NC_000012.12:132604201:C:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.132604202C>T, NC_000012.11:g.133180788C>T, XM_011534780.3:c.529G>A, XM_011534780.2:c.529G>A, XM_011534780.1:c.529G>A, XM_011534785.2:c.373G>A, XM_011534785.1:c.373G>A, XM_011534784.2:c.373G>A, XM_011534784.1:c.373G>A, XM_047428044.1:c.373G>A, XM_047428045.1:c.373G>A, XP_011533082.1:p.Gly177Arg, XP_011533087.1:p.Gly125Arg, XP_011533086.1:p.Gly125Arg, XP_047284000.1:p.Gly125Arg, XP_047284001.1:p.Gly125Arg

Select item 142188126117.

rs1421881261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:132604322 (GRCh38)
12:133180908 (GRCh37)
Canonical SPDI:: NC_000012.12:132604321:G:T
Gene:: LRCOL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.132604322G>T, NC_000012.11:g.133180908G>T, XM_011534780.3:c.409C>A, XM_011534780.2:c.409C>A, XM_011534780.1:c.409C>A, XM_011534785.2:c.253C>A, XM_011534785.1:c.253C>A, XM_011534784.2:c.253C>A, XM_011534784.1:c.253C>A, NM_001195520.2:c.409C>A, NM_001195520.1:c.409C>A, XM_047428044.1:c.253C>A, XM_047428045.1:c.253C>A, XM_047428046.1:c.253C>A, XP_011533082.1:p.Gln137Lys, XP_011533087.1:p.Gln85Lys, XP_011533086.1:p.Gln85Lys, NP_001182449.1:p.Gln137Lys, XP_047284000.1:p.Gln85Lys, XP_047284001.1:p.Gln85Lys, XP_047284002.1:p.Gln85Lys

Select item 141233634018.

rs1412336340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132604492 (GRCh38)
12:133181078 (GRCh37)
Canonical SPDI:: NC_000012.12:132604491:G:A
Gene:: LRCOL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604492G>A, NC_000012.11:g.133181078G>A, XM_011534780.3:c.324C>T, XM_011534780.2:c.324C>T, XM_011534780.1:c.324C>T, XM_011534785.2:c.168C>T, XM_011534785.1:c.168C>T, XM_011534784.2:c.168C>T, XM_011534784.1:c.168C>T, NM_001195520.2:c.324C>T, NM_001195520.1:c.324C>T, XM_047428044.1:c.168C>T, XM_047428045.1:c.168C>T, XM_047428046.1:c.168C>T

Select item 141162712719.

rs1411627127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:132604482 (GRCh38)
12:133181068 (GRCh37)
Canonical SPDI:: NC_000012.12:132604481:G:A
Gene:: LRCOL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604482G>A, NC_000012.11:g.133181068G>A, XM_011534780.3:c.334C>T, XM_011534780.2:c.334C>T, XM_011534780.1:c.334C>T, XM_011534785.2:c.178C>T, XM_011534785.1:c.178C>T, XM_011534784.2:c.178C>T, XM_011534784.1:c.178C>T, NM_001195520.2:c.334C>T, NM_001195520.1:c.334C>T, XM_047428044.1:c.178C>T, XM_047428045.1:c.178C>T, XM_047428046.1:c.178C>T, XP_011533082.1:p.Gln112Ter, XP_011533087.1:p.Gln60Ter, XP_011533086.1:p.Gln60Ter, NP_001182449.1:p.Gln112Ter, XP_047284000.1:p.Gln60Ter, XP_047284001.1:p.Gln60Ter, XP_047284002.1:p.Gln60Ter

Select item 140724450120.

rs1407244501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:132604331 (GRCh38)
12:133180917 (GRCh37)
Canonical SPDI:: NC_000012.12:132604330:A:C
Gene:: LRCOL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.132604331A>C, NC_000012.11:g.133180917A>C, XM_011534780.3:c.400T>G, XM_011534780.2:c.400T>G, XM_011534780.1:c.400T>G, XM_011534785.2:c.244T>G, XM_011534785.1:c.244T>G, XM_011534784.2:c.244T>G, XM_011534784.1:c.244T>G, NM_001195520.2:c.400T>G, NM_001195520.1:c.400T>G, XM_047428044.1:c.244T>G, XM_047428045.1:c.244T>G, XM_047428046.1:c.244T>G, XP_011533082.1:p.Cys134Gly, XP_011533087.1:p.Cys82Gly, XP_011533086.1:p.Cys82Gly, NP_001182449.1:p.Cys134Gly, XP_047284000.1:p.Cys82Gly, XP_047284001.1:p.Cys82Gly, XP_047284002.1:p.Cys82Gly

dbSNP

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