Canonical Allele Identifier: CA259809

Gene: SLCO1B1

Linked Data

• ClinVar Variation Id: 30437
• ClinVar RCV Id: RCV000023390 ; RCV001815169 ; RCV003914860
• dbSNP Id: rs71581941
• ExAC: 12:21375289 C / T
• gnomAD v2: 12-21375289-C-T
• gnomAD v3: 12-21222355-C-T
• gnomAD v4: 12-21222355-C-T
• COSMIC: COSM4146946
• MyVariant Identifiers: chr12:g.21375289C>T (hg19) ; chr12:g.21222355C>T (hg38)
• PubMed: PMID:22232210

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21222355C>T , CM000674.2:g.21222355C>T	GRCh38
NC_000012.11:g.21375289C>T , CM000674.1:g.21375289C>T	GRCh37
NC_000012.10:g.21266556C>T	NCBI36
NG_011745.1:g.96162C>T , LRG_1022:g.96162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256958.3:c.1738C>T MANE Select	ENSP00000256958.2:p.Arg580Ter
ENST00000256958.2:c.1738C>T	ENSP00000256958.2:p.Arg580Ter
NM_006446.4:c.1738C>T , LRG_1022t1:c.1738C>T	NP_006437.3:p.Arg580Ter
NM_006446.5:c.1738C>T MANE Select	NP_006437.3:p.Arg580Ter