Canonical Allele Identifier: CA6476689

Gene: SLCO1B1

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)
• PubMed: PMID:18781850
• Allelic Epigenome: Alellic Epigenome (raw data)

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