Canonical Allele Identifier: CA3357930

Gene: SLCO6A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1820T>C MANE Select	ENSP00000421339.1:p.Val607Ala
ENST00000379807.7:c.1820T>C	ENSP00000369135.3:p.Val607Ala
ENST00000389019.7:c.1634T>C	ENSP00000373671.3:p.Val545Ala
ENST00000506729.5:c.1820T>C	ENSP00000421339.1:p.Val607Ala
ENST00000513675.1:c.1061T>C	ENSP00000421990.1:p.Val354Ala
ENST00000514765.6:n.190T>C
NM_001289002.1:c.1820T>C	NP_001275931.1:p.Val607Ala
NM_001289004.1:c.1634T>C	NP_001275933.1:p.Val545Ala
NM_001308014.1:c.1061T>C	NP_001294943.1:p.Val354Ala
NM_173488.4:c.1820T>C	NP_775759.3:p.Val607Ala
XM_005271874.2:c.1820T>C	XP_005271931.1:p.Val607Ala
XM_011543147.1:c.1715T>C	XP_011541449.1:p.Val572Ala
XM_011543148.1:c.1583T>C	XP_011541450.1:p.Val528Ala
XM_011543149.1:c.1247T>C	XP_011541451.1:p.Val416Ala
XM_011543150.1:c.1091T>C	XP_011541452.1:p.Val364Ala
XM_011543151.1:c.1061T>C	XP_011541453.1:p.Val354Ala
XM_011543153.1:c.998T>C	XP_011541455.1:p.Val333Ala
XM_005271874.3:c.1820T>C	XP_005271931.1:p.Val607Ala
XM_011543147.2:c.1715T>C	XP_011541449.1:p.Val572Ala
XM_011543148.2:c.1583T>C	XP_011541450.1:p.Val528Ala
XM_011543153.2:c.998T>C	XP_011541455.1:p.Val333Ala
NM_001289002.2:c.1820T>C	NP_001275931.1:p.Val607Ala
NM_001289004.2:c.1634T>C	NP_001275933.1:p.Val545Ala
NM_001308014.2:c.1061T>C	NP_001294943.1:p.Val354Ala
NM_173488.5:c.1820T>C MANE Select	NP_775759.3:p.Val607Ala