Canonical Allele Identifier: CA384099193
Gene: SLCO1B3 HGNC NCBI
SLCO1B3-SLCO1B7 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.20858546T>C
GRCh37 chr12:g.21011480T>C
Revel Score:
ENST00000540853 0.340
ENST00000261196 0.340
ENST00000381545 (MANE Select) 0.340
ENST00000553473 0.340
ENST00000381541 0.340
ENST00000540229 0.340
ENST00000554957 0.340
dbSNP:
4149117
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.20858546T>C , CM000674.2:g.20858546T>C GRCh38
NC_000012.11:g.21011480T>C , CM000674.1:g.21011480T>C GRCh37
NC_000012.10:g.20902747T>C NCBI36
NG_032071.1:g.52843T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381545.8:c.334T>C (SLCO1B3) MANE Select ENSP00000370956.4:p.Ser112Pro
ENST00000261196.6:c.334T>C (SLCO1B3) ENSP00000261196.2:p.Ser112Pro
ENST00000381541.7:c.334T>C (SLCO1B3-SLCO1B7) ENSP00000370952.3:p.Ser112Pro
ENST00000381545.7:c.334T>C (SLCO1B3) ENSP00000370956.3:p.Ser112Pro
ENST00000540229.1:c.334T>C (SLCO1B3-SLCO1B7) ENSP00000441269.1:p.Ser112Pro
ENST00000540853.5:c.334T>C (SLCO1B3) ENSP00000442000.1:p.Ser112Pro
ENST00000545880.1:n.186T>C (SLCO1B3)
NM_019844.3:c.334T>C (SLCO1B3) NP_062818.1:p.Ser112Pro
NM_001349920.1:c.250T>C (SLCO1B3) NP_001336849.1:p.Ser84Pro
NM_001349920.2:c.250T>C (SLCO1B3) NP_001336849.1:p.Ser84Pro
NM_001371097.1:c.334T>C (SLCO1B3-SLCO1B7) NP_001358026.1:p.Ser112Pro
NM_019844.4:c.334T>C (SLCO1B3) MANE Select NP_062818.1:p.Ser112Pro
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