Canonical Allele Identifier: CA360574016

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726735T>A (hg19) ; chr5:g.102391031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391031T>A , CM000667.2:g.102391031T>A	GRCh38
NC_000005.9:g.101726735T>A , CM000667.1:g.101726735T>A	GRCh37
NC_000005.8:g.101754634T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1829A>T MANE Select	ENSP00000421339.1:p.Lys610Ile
ENST00000379807.7:c.1829A>T	ENSP00000369135.3:p.Lys610Ile
ENST00000389019.7:c.1643A>T	ENSP00000373671.3:p.Lys548Ile
ENST00000506729.5:c.1829A>T	ENSP00000421339.1:p.Lys610Ile
ENST00000513675.1:c.1070A>T	ENSP00000421990.1:p.Lys357Ile
ENST00000514765.6:n.199A>T
NM_001289002.1:c.1829A>T	NP_001275931.1:p.Lys610Ile
NM_001289004.1:c.1643A>T	NP_001275933.1:p.Lys548Ile
NM_001308014.1:c.1070A>T	NP_001294943.1:p.Lys357Ile
NM_173488.4:c.1829A>T	NP_775759.3:p.Lys610Ile
XM_005271874.2:c.1829A>T	XP_005271931.1:p.Lys610Ile
XM_011543147.1:c.1724A>T	XP_011541449.1:p.Lys575Ile
XM_011543148.1:c.1592A>T	XP_011541450.1:p.Lys531Ile
XM_011543149.1:c.1256A>T	XP_011541451.1:p.Lys419Ile
XM_011543150.1:c.1100A>T	XP_011541452.1:p.Lys367Ile
XM_011543151.1:c.1070A>T	XP_011541453.1:p.Lys357Ile
XM_011543153.1:c.1007A>T	XP_011541455.1:p.Lys336Ile
XM_005271874.3:c.1829A>T	XP_005271931.1:p.Lys610Ile
XM_011543147.2:c.1724A>T	XP_011541449.1:p.Lys575Ile
XM_011543148.2:c.1592A>T	XP_011541450.1:p.Lys531Ile
XM_011543153.2:c.1007A>T	XP_011541455.1:p.Lys336Ile
NM_001289002.2:c.1829A>T	NP_001275931.1:p.Lys610Ile
NM_001289004.2:c.1643A>T	NP_001275933.1:p.Lys548Ile
NM_001308014.2:c.1070A>T	NP_001294943.1:p.Lys357Ile
NM_173488.5:c.1829A>T MANE Select	NP_775759.3:p.Lys610Ile