SNP Links for Protein (Select 14211851) - SNP

Links from Protein

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Select item 14885418091.

rs1488541809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:122729606 (GRCh38)
12:123214153 (GRCh37)
Canonical SPDI:: NC_000012.12:122729605:C:G
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729606C>G, NC_000012.11:g.123214153C>G, NM_032554.4:c.734G>C, NM_032554.3:c.734G>C, NP_115943.1:p.Trp245Ser

Select item 14843587602.

rs1484358760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729420 (GRCh38)
12:123213967 (GRCh37)
Canonical SPDI:: NC_000012.12:122729419:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000012.12:g.122729420G>A, NC_000012.11:g.123213967G>A, NM_032554.4:c.920C>T, NM_032554.3:c.920C>T, NP_115943.1:p.Thr307Ile

Select item 14761810763.

rs1476181076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:122729535 (GRCh38)
12:123214082 (GRCh37)
Canonical SPDI:: NC_000012.12:122729534:T:G
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729535T>G, NC_000012.11:g.123214082T>G, NM_032554.4:c.805A>C, NM_032554.3:c.805A>C, NP_115943.1:p.Met269Leu

Select item 14753787234.

rs1475378723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:122730059 (GRCh38)
12:123214606 (GRCh37)
Canonical SPDI:: NC_000012.12:122730058:G:A,NC_000012.12:122730058:G:C
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122730059G>A, NC_000012.12:g.122730059G>C, NC_000012.11:g.123214606G>A, NC_000012.11:g.123214606G>C, NM_032554.4:c.281C>T, NM_032554.4:c.281C>G, NM_032554.3:c.281C>T, NM_032554.3:c.281C>G, NP_115943.1:p.Thr94Met, NP_115943.1:p.Thr94Arg

Select item 14744599155.

rs1474459915 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTCC>- [Show Flanks]
Chromosome:: 12:122730003 (GRCh38)
12:123214550 (GRCh37)
Canonical SPDI:: NC_000012.12:122730000:CCTGTCC:CC
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122730003_122730007del, NC_000012.11:g.123214550_123214554del, NM_032554.4:c.335_339del, NM_032554.3:c.335_339del, NP_115943.1:p.Asp112fs

Select item 14738521196.

rs1473852119 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122729303 (GRCh38)
12:123213850 (GRCh37)
Canonical SPDI:: NC_000012.12:122729302:T:C
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729303T>C, NC_000012.11:g.123213850T>C, NM_032554.4:c.1037A>G, NM_032554.3:c.1037A>G, NP_115943.1:p.His346Arg

Select item 14694544687.

rs1469454468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:122730067 (GRCh38)
12:123214614 (GRCh37)
Canonical SPDI:: NC_000012.12:122730066:C:A,NC_000012.12:122730066:C:T
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.122730067C>A, NC_000012.12:g.122730067C>T, NC_000012.11:g.123214614C>A, NC_000012.11:g.123214614C>T, NM_032554.4:c.273G>T, NM_032554.4:c.273G>A, NM_032554.3:c.273G>T, NM_032554.3:c.273G>A

Select item 14664876148.

rs1466487614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729493 (GRCh38)
12:123214040 (GRCh37)
Canonical SPDI:: NC_000012.12:122729492:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729493G>A, NC_000012.11:g.123214040G>A, NM_032554.4:c.847C>T, NM_032554.3:c.847C>T, NP_115943.1:p.Pro283Ser

Select item 14632626229.

rs1463262622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:122730104 (GRCh38)
12:123214651 (GRCh37)
Canonical SPDI:: NC_000012.12:122730103:C:G
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122730104C>G, NC_000012.11:g.123214651C>G, NM_032554.4:c.236G>C, NM_032554.3:c.236G>C, NP_115943.1:p.Arg79Thr

Select item 146251208410.

rs1462512084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122729805 (GRCh38)
12:123214352 (GRCh37)
Canonical SPDI:: NC_000012.12:122729804:T:C
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729805T>C, NC_000012.11:g.123214352T>C, NM_032554.4:c.535A>G, NM_032554.3:c.535A>G, NP_115943.1:p.Ile179Val

Select item 146032687711.

rs1460326877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729753 (GRCh38)
12:123214300 (GRCh37)
Canonical SPDI:: NC_000012.12:122729752:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.122729753G>A, NC_000012.11:g.123214300G>A, NM_032554.4:c.587C>T, NM_032554.3:c.587C>T, NP_115943.1:p.Ser196Phe

Select item 145713780912.

rs1457137809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122729315 (GRCh38)
12:123213862 (GRCh37)
Canonical SPDI:: NC_000012.12:122729314:A:G
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.122729315A>G, NC_000012.11:g.123213862A>G, NM_032554.4:c.1025T>C, NM_032554.3:c.1025T>C, NP_115943.1:p.Ile342Thr

Select item 145651517613.

rs1456515176 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:122729556 (GRCh38)
12:123214103 (GRCh37)
Canonical SPDI:: NC_000012.12:122729555:T:A,NC_000012.12:122729555:T:C
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122729556T>A, NC_000012.12:g.122729556T>C, NC_000012.11:g.123214103T>A, NC_000012.11:g.123214103T>C, NM_032554.4:c.784A>T, NM_032554.4:c.784A>G, NM_032554.3:c.784A>T, NM_032554.3:c.784A>G, NP_115943.1:p.Ile262Leu, NP_115943.1:p.Ile262Val

Select item 145505220814.

rs1455052208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122730164 (GRCh38)
12:123214711 (GRCh37)
Canonical SPDI:: NC_000012.12:122730163:A:G
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122730164A>G, NC_000012.11:g.123214711A>G, NM_032554.4:c.176T>C, NM_032554.3:c.176T>C, NP_115943.1:p.Val59Ala

Select item 145222898615.

rs1452228986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729580 (GRCh38)
12:123214127 (GRCh37)
Canonical SPDI:: NC_000012.12:122729579:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122729580G>A, NC_000012.11:g.123214127G>A, NM_032554.4:c.760C>T, NM_032554.3:c.760C>T, NP_115943.1:p.Pro254Ser

Select item 144900287216.

rs1449002872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729439 (GRCh38)
12:123213986 (GRCh37)
Canonical SPDI:: NC_000012.12:122729438:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122729439G>A, NC_000012.11:g.123213986G>A, NM_032554.4:c.901C>T, NM_032554.3:c.901C>T, NP_115943.1:p.Gln301Ter

Select item 144893471517.

rs1448934715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:122730313 (GRCh38)
12:123214860 (GRCh37)
Canonical SPDI:: NC_000012.12:122730312:G:C,NC_000012.12:122730312:G:T
Gene:: HCAR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122730313G>C, NC_000012.12:g.122730313G>T, NC_000012.11:g.123214860G>C, NC_000012.11:g.123214860G>T, NM_032554.4:c.27C>G, NM_032554.4:c.27C>A, NM_032554.3:c.27C>G, NM_032554.3:c.27C>A, NP_115943.1:p.Ile9Met

Select item 144778305318.

rs1447783053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729718 (GRCh38)
12:123214265 (GRCh37)
Canonical SPDI:: NC_000012.12:122729717:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729718G>A, NC_000012.11:g.123214265G>A, NM_032554.4:c.622C>T, NM_032554.3:c.622C>T, NP_115943.1:p.Gln208Ter

Select item 144733488519.

rs1447334885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122729473 (GRCh38)
12:123214020 (GRCh37)
Canonical SPDI:: NC_000012.12:122729472:G:A
Gene:: HCAR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122729473G>A, NC_000012.11:g.123214020G>A, NM_032554.4:c.867C>T, NM_032554.3:c.867C>T

Select item 144368555720.

rs1443685557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122730035 (GRCh38)
12:123214582 (GRCh37)
Canonical SPDI:: NC_000012.12:122730034:C:T
Gene:: HCAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.122730035C>T, NC_000012.11:g.123214582C>T, NM_032554.4:c.305G>A, NM_032554.3:c.305G>A, NP_115943.1:p.Ser102Asn

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Items: 1 to 20 of 387

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