Canonical Allele Identifier: CA384109340
Gene: SLCO1B1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.21217213C>G
GRCh37 chr12:g.21370147C>G
Revel Score:
ENST00000256958 (MANE Select) 0.013
gnomAD v3:
12:21217213 C / G
gnomAD v4:
chr12-21217213-C-G
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
1021017
ClinVar RCV:
RCV001336964
ClinVar Variation:
1034278
dbSNP:
908931153
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21217213C>G , CM000674.2:g.21217213C>G GRCh38
NC_000012.11:g.21370147C>G , CM000674.1:g.21370147C>G GRCh37
NC_000012.10:g.21261414C>G NCBI36
NG_011745.1:g.91020C>G , LRG_1022:g.91020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.1592C>G MANE Select ENSP00000256958.2:p.Thr531Arg
ENST00000256958.2:c.1592C>G ENSP00000256958.2:p.Thr531Arg
NM_006446.4:c.1592C>G , LRG_1022t1:c.1592C>G NP_006437.3:p.Thr531Arg
NM_006446.5:c.1592C>G MANE Select NP_006437.3:p.Thr531Arg
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