Canonical Allele Identifier: CA233555530
Gene: SLCO1B1 HGNC NCBI
COSMIC:
COSN16217411 (not active)
MyVariant.info:
GRCh38 chr12:g.21168436T>C
GRCh37 chr12:g.21321370T>C
gnomAD v2:
12:21321370 T / C
gnomAD v3:
12:21168436 T / C
gnomAD v4:
chr12-21168436-T-C
Joint Max Group AF 0.29720559 (SAS)
Genomes Max Group AF 0.29720559 (SAS)
dbSNP:
10841753
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21168436T>C , CM000674.2:g.21168436T>C GRCh38
NC_000012.11:g.21321370T>C , CM000674.1:g.21321370T>C GRCh37
NC_000012.10:g.21212637T>C NCBI36
NG_011745.1:g.42243T>C , LRG_1022:g.42243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256958.3:c.85-4214T>C MANE Select ENSP00000256958.2:n.85-4214T>C
ENST00000256958.2:c.85-4214T>C ENSP00000256958.2:n.85-4214T>C
ENST00000543498.5:c.426-8340T>C
NM_006446.4:c.85-4214T>C , LRG_1022t1:c.85-4214T>C NP_006437.3:n.85-4214T>C
NM_006446.5:c.85-4214T>C MANE Select NP_006437.3:n.85-4214T>C
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