Canonical Allele Identifier: CA6476916
Gene: SLCO1B1 HGNC NCBI

Linked Data

dbSNP Id: rs750601432
ExAC: 12:21353596 C / T
gnomAD v2: 12-21353596-C-T
gnomAD v4: 12-21200662-C-T
COSMIC: COSM5672063
MyVariant Identifiers: chr12:g.21353596C>T (hg19) chr12:g.21200662C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21200662C>T , CM000674.2:g.21200662C>T GRCh38
NC_000012.11:g.21353596C>T , CM000674.1:g.21353596C>T GRCh37
NC_000012.10:g.21244863C>T NCBI36
NG_011745.1:g.74469C>T , LRG_1022:g.74469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.1125C>T MANE Select ENSP00000256958.2:p.Asn375=
ENST00000256958.2:c.1125C>T ENSP00000256958.2:p.Asn375=
NM_006446.4:c.1125C>T , LRG_1022t1:c.1125C>T NP_006437.3:p.Asn375=
NM_006446.5:c.1125C>T MANE Select NP_006437.3:p.Asn375=
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