Canonical Allele Identifier: CA913191232

Gene: SLCO1B3 SLCO1B3-SLCO1B7

Linked Data

• ClinVar Variation Id: 631675
• ClinVar RCV Id: RCV000778358
• dbSNP Id: rs1565591652
• gnomAD v3: 12-20858501-AT-A
• gnomAD v4: 12-20858501-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.20858503del , CM000674.2:g.20858503del	GRCh38
NC_000012.11:g.21011437del , CM000674.1:g.21011437del	GRCh37
NC_000012.10:g.20902704del	NCBI36
NG_032071.1:g.52800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381545.8:c.291del (SLCO1B3) MANE Select	ENSP00000370956.4:p.Ile97MetfsTer14
ENST00000261196.6:c.291del (SLCO1B3)	ENSP00000261196.2:p.Ile97MetfsTer14
ENST00000381541.7:c.291del (SLCO1B3-SLCO1B7)	ENSP00000370952.3:p.Ile97MetfsTer14
ENST00000381545.7:c.291del (SLCO1B3)	ENSP00000370956.3:p.Ile97MetfsTer14
ENST00000540229.1:c.291del (SLCO1B3-SLCO1B7)	ENSP00000441269.1:p.Ile97MetfsTer14
ENST00000540853.5:c.291del (SLCO1B3)	ENSP00000442000.1:p.Ile97MetfsTer14
ENST00000545880.1:n.143del (SLCO1B3)
NM_019844.3:c.291del (SLCO1B3)	NP_062818.1:p.Ile97MetfsTer14
NM_001349920.1:c.207del (SLCO1B3)	NP_001336849.1:p.Ile69MetfsTer14
NM_001349920.2:c.207del (SLCO1B3)	NP_001336849.1:p.Ile69MetfsTer14
NM_001371097.1:c.291del (SLCO1B3-SLCO1B7)	NP_001358026.1:p.Ile97MetfsTer14
NM_019844.4:c.291del (SLCO1B3) MANE Select	NP_062818.1:p.Ile97MetfsTer14