Canonical Allele Identifier: CA6476689
Gene: SLCO1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 307937
ClinVar RCV Id: RCV000364840 RCV001706464 RCV003967889
dbSNP Id: rs11045819
ExAC: 12:21329813 C / A
gnomAD v2: 12-21329813-C-A
gnomAD v3: 12-21176879-C-A
gnomAD v4: 12-21176879-C-A
MyVariant Identifiers: chr12:g.21329813C>A (hg19) chr12:g.21176879C>A (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
PubMed: PMID:18781850
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21176879C>A , CM000674.2:g.21176879C>A GRCh38
NC_000012.11:g.21329813C>A , CM000674.1:g.21329813C>A GRCh37
NC_000012.10:g.21221080C>A NCBI36
NG_011745.1:g.50686C>A , LRG_1022:g.50686C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256958.3:c.463C>A MANE Select ENSP00000256958.2:p.Pro155Thr
ENST00000256958.2:c.463C>A ENSP00000256958.2:p.Pro155Thr
ENST00000543498.5:c.529C>A
NM_006446.4:c.463C>A , LRG_1022t1:c.463C>A NP_006437.3:p.Pro155Thr
NM_006446.5:c.463C>A MANE Select NP_006437.3:p.Pro155Thr
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