Canonical Allele Identifier: CA360574051

Gene: SLCO6A1

Linked Data

• dbSNP Id: rs150169825
• gnomAD v2: 5-101726744-A-T
• gnomAD v3: 5-102391040-A-T
• gnomAD v4: 5-102391040-A-T
• MyVariant Identifiers: chr5:g.101726744A>T (hg19) ; chr5:g.102391040A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391040A>T , CM000667.2:g.102391040A>T	GRCh38
NC_000005.9:g.101726744A>T , CM000667.1:g.101726744A>T	GRCh37
NC_000005.8:g.101754643A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1820T>A MANE Select	ENSP00000421339.1:p.Val607Glu
ENST00000379807.7:c.1820T>A	ENSP00000369135.3:p.Val607Glu
ENST00000389019.7:c.1634T>A	ENSP00000373671.3:p.Val545Glu
ENST00000506729.5:c.1820T>A	ENSP00000421339.1:p.Val607Glu
ENST00000513675.1:c.1061T>A	ENSP00000421990.1:p.Val354Glu
ENST00000514765.6:n.190T>A
NM_001289002.1:c.1820T>A	NP_001275931.1:p.Val607Glu
NM_001289004.1:c.1634T>A	NP_001275933.1:p.Val545Glu
NM_001308014.1:c.1061T>A	NP_001294943.1:p.Val354Glu
NM_173488.4:c.1820T>A	NP_775759.3:p.Val607Glu
XM_005271874.2:c.1820T>A	XP_005271931.1:p.Val607Glu
XM_011543147.1:c.1715T>A	XP_011541449.1:p.Val572Glu
XM_011543148.1:c.1583T>A	XP_011541450.1:p.Val528Glu
XM_011543149.1:c.1247T>A	XP_011541451.1:p.Val416Glu
XM_011543150.1:c.1091T>A	XP_011541452.1:p.Val364Glu
XM_011543151.1:c.1061T>A	XP_011541453.1:p.Val354Glu
XM_011543153.1:c.998T>A	XP_011541455.1:p.Val333Glu
XM_005271874.3:c.1820T>A	XP_005271931.1:p.Val607Glu
XM_011543147.2:c.1715T>A	XP_011541449.1:p.Val572Glu
XM_011543148.2:c.1583T>A	XP_011541450.1:p.Val528Glu
XM_011543153.2:c.998T>A	XP_011541455.1:p.Val333Glu
NM_001289002.2:c.1820T>A	NP_001275931.1:p.Val607Glu
NM_001289004.2:c.1634T>A	NP_001275933.1:p.Val545Glu
NM_001308014.2:c.1061T>A	NP_001294943.1:p.Val354Glu
NM_173488.5:c.1820T>A MANE Select	NP_775759.3:p.Val607Glu