Canonical Allele Identifier: CA360574025

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726736T>G (hg19) ; chr5:g.102391032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391032T>G , CM000667.2:g.102391032T>G	GRCh38
NC_000005.9:g.101726736T>G , CM000667.1:g.101726736T>G	GRCh37
NC_000005.8:g.101754635T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1828A>C MANE Select	ENSP00000421339.1:p.Lys610Gln
ENST00000379807.7:c.1828A>C	ENSP00000369135.3:p.Lys610Gln
ENST00000389019.7:c.1642A>C	ENSP00000373671.3:p.Lys548Gln
ENST00000506729.5:c.1828A>C	ENSP00000421339.1:p.Lys610Gln
ENST00000513675.1:c.1069A>C	ENSP00000421990.1:p.Lys357Gln
ENST00000514765.6:n.198A>C
NM_001289002.1:c.1828A>C	NP_001275931.1:p.Lys610Gln
NM_001289004.1:c.1642A>C	NP_001275933.1:p.Lys548Gln
NM_001308014.1:c.1069A>C	NP_001294943.1:p.Lys357Gln
NM_173488.4:c.1828A>C	NP_775759.3:p.Lys610Gln
XM_005271874.2:c.1828A>C	XP_005271931.1:p.Lys610Gln
XM_011543147.1:c.1723A>C	XP_011541449.1:p.Lys575Gln
XM_011543148.1:c.1591A>C	XP_011541450.1:p.Lys531Gln
XM_011543149.1:c.1255A>C	XP_011541451.1:p.Lys419Gln
XM_011543150.1:c.1099A>C	XP_011541452.1:p.Lys367Gln
XM_011543151.1:c.1069A>C	XP_011541453.1:p.Lys357Gln
XM_011543153.1:c.1006A>C	XP_011541455.1:p.Lys336Gln
XM_005271874.3:c.1828A>C	XP_005271931.1:p.Lys610Gln
XM_011543147.2:c.1723A>C	XP_011541449.1:p.Lys575Gln
XM_011543148.2:c.1591A>C	XP_011541450.1:p.Lys531Gln
XM_011543153.2:c.1006A>C	XP_011541455.1:p.Lys336Gln
NM_001289002.2:c.1828A>C	NP_001275931.1:p.Lys610Gln
NM_001289004.2:c.1642A>C	NP_001275933.1:p.Lys548Gln
NM_001308014.2:c.1069A>C	NP_001294943.1:p.Lys357Gln
NM_173488.5:c.1828A>C MANE Select	NP_775759.3:p.Lys610Gln