Canonical Allele Identifier: CA6476730
Gene: SLCO1B1 HGNC NCBI

Linked Data

dbSNP Id: rs142101690
ExAC: 12:21331570 G / A
gnomAD v2: 12-21331570-G-A
gnomAD v3: 12-21178636-G-A
gnomAD v4: 12-21178636-G-A
MyVariant Identifiers: chr12:g.21331570G>A (hg19) chr12:g.21178636G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21178636G>A , CM000674.2:g.21178636G>A GRCh38
NC_000012.11:g.21331570G>A , CM000674.1:g.21331570G>A GRCh37
NC_000012.10:g.21222837G>A NCBI36
NG_011745.1:g.52443G>A , LRG_1022:g.52443G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.542G>A MANE Select ENSP00000256958.2:p.Arg181His
ENST00000256958.2:c.542G>A ENSP00000256958.2:p.Arg181His
NM_006446.4:c.542G>A , LRG_1022t1:c.542G>A NP_006437.3:p.Arg181His
NM_006446.5:c.542G>A MANE Select NP_006437.3:p.Arg181His
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