Canonical Allele Identifier: CA6476624

Gene: SLCO1B1

Linked Data

• dbSNP Id: rs760778288
• ExAC: 12:21327463 C / T
• gnomAD v2: 12-21327463-C-T
• gnomAD v3: 12-21174529-C-T
• gnomAD v4: 12-21174529-C-T
• COSMIC: COSN24405220
• MyVariant Identifiers: chr12:g.21327463C>T (hg19) ; chr12:g.21174529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21174529C>T , CM000674.2:g.21174529C>T	GRCh38
NC_000012.11:g.21327463C>T , CM000674.1:g.21327463C>T	GRCh37
NC_000012.10:g.21218730C>T	NCBI36
NG_011745.1:g.48336C>T , LRG_1022:g.48336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256958.3:c.227-48C>T MANE Select	ENSP00000256958.2:n.227-48C>T
ENST00000256958.2:c.227-48C>T	ENSP00000256958.2:n.227-48C>T
ENST00000543498.5:c.426-2247C>T
NM_006446.4:c.227-48C>T , LRG_1022t1:c.227-48C>T	NP_006437.3:n.227-48C>T
NM_006446.5:c.227-48C>T MANE Select	NP_006437.3:n.227-48C>T