Canonical Allele Identifier: CA6476722
Gene: SLCO1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37346
ClinVar RCV Id: RCV001705611 RCV001787324 RCV001787325 RCV001787333 RCV001787819 RCV001787820 RCV003227613 RCV003227614 RCV003227615 RCV003227616 RCV003227617 RCV003227618 RCV003227619 RCV003227620 RCV003227621 RCV003982852
dbSNP Id: rs4149056
ExAC: 12:21331549 T / C
gnomAD v2: 12-21331549-T-C
gnomAD v3: 12-21178615-T-C
gnomAD v4: 12-21178615-T-C
MyVariant Identifiers: chr12:g.21331549T>C (hg19) chr12:g.21178615T>C (hg38)
PubMed: PMID:12811365 PMID:15116054 PMID:15226675 PMID:16103896 PMID:16678544 PMID:16722833 PMID:17015053 PMID:17108811 PMID:17439540 PMID:17473846 PMID:17622941 PMID:18650507 PMID:18794729 PMID:19833260 PMID:21178985 PMID:21243006 PMID:21386754 PMID:21851379 PMID:21928084 PMID:22668755 PMID:22992668 PMID:23361102 PMID:23708174 PMID:23876492 PMID:23930675 PMID:23942138 PMID:24263182 PMID:24595600 PMID:24598718 PMID:25446771 PMID:25630984 PMID:25673568 PMID:26086347 PMID:26164721 PMID:26367500
CIViC: CA6476722
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21178615T>C , CM000674.2:g.21178615T>C GRCh38
NC_000012.11:g.21331549T>C , CM000674.1:g.21331549T>C GRCh37
NC_000012.10:g.21222816T>C NCBI36
NG_011745.1:g.52422T>C , LRG_1022:g.52422T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256958.3:c.521T>C MANE Select ENSP00000256958.2:p.Val174Ala
ENST00000256958.2:c.521T>C ENSP00000256958.2:p.Val174Ala
NM_006446.4:c.521T>C , LRG_1022t1:c.521T>C NP_006437.3:p.Val174Ala
NM_006446.5:c.521T>C MANE Select NP_006437.3:p.Val174Ala
Search 100 bp 5'
Search 100 bp 3'