Canonical Allele Identifier: CA6476685

Gene: SLCO1B1

Linked Data

• ClinVar Variation Id: 883909
• ClinVar RCV Id: RCV001114688
• dbSNP Id: rs2306282
• ExAC: 12:21329802 A / G
• gnomAD v2: 12-21329802-A-G
• gnomAD v3: 12-21176868-A-G
• gnomAD v4: 12-21176868-A-G
• MyVariant Identifiers: chr12:g.21329802A>G (hg19) ; chr12:g.21176868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21176868A>G , CM000674.2:g.21176868A>G	GRCh38
NC_000012.11:g.21329802A>G , CM000674.1:g.21329802A>G	GRCh37
NC_000012.10:g.21221069A>G	NCBI36
NG_011745.1:g.50675A>G , LRG_1022:g.50675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256958.3:c.452A>G MANE Select	ENSP00000256958.2:p.Asn151Ser
ENST00000256958.2:c.452A>G	ENSP00000256958.2:p.Asn151Ser
ENST00000543498.5:c.518A>G
NM_006446.4:c.452A>G , LRG_1022t1:c.452A>G	NP_006437.3:p.Asn151Ser
NM_006446.5:c.452A>G MANE Select	NP_006437.3:p.Asn151Ser