Canonical Allele Identifier: CA233581377
Gene: SLCO1B1 HGNC NCBI
dbSNP:
55737008
gnomAD v3:
12:21239113 A / G
gnomAD v4:
chr12-21239113-A-G
MyVariant.info:
GRCh38 chr12:g.21239113A>G
GRCh37 chr12:g.21392047A>G
Revel Score:
ENST00000256958 (MANE Select) 0.096
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21239113A>G , CM000674.2:g.21239113A>G GRCh38
NC_000012.11:g.21392047A>G , CM000674.1:g.21392047A>G GRCh37
NC_000012.10:g.21283314A>G NCBI36
NG_011745.1:g.112920A>G , LRG_1022:g.112920A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.2000A>G MANE Select ENSP00000256958.2:p.Glu667Gly
ENST00000256958.2:c.2000A>G ENSP00000256958.2:p.Glu667Gly
NM_006446.4:c.2000A>G , LRG_1022t1:c.2000A>G NP_006437.3:p.Glu667Gly
NM_006446.5:c.2000A>G MANE Select NP_006437.3:p.Glu667Gly
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