Canonical Allele Identifier: CA360573795

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726685C>T (hg19) ; chr5:g.102390981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390981C>T , CM000667.2:g.102390981C>T	GRCh38
NC_000005.9:g.101726685C>T , CM000667.1:g.101726685C>T	GRCh37
NC_000005.8:g.101754584C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506729.6:c.1879G>A MANE Select	ENSP00000421339.1:p.Gly627Arg
ENST00000379807.7:c.1879G>A	ENSP00000369135.3:p.Gly627Arg
ENST00000389019.7:c.1693G>A	ENSP00000373671.3:p.Gly565Arg
ENST00000506729.5:c.1879G>A	ENSP00000421339.1:p.Gly627Arg
ENST00000513675.1:c.1120G>A	ENSP00000421990.1:p.Gly374Arg
ENST00000514765.6:n.249G>A
NM_001289002.1:c.1879G>A	NP_001275931.1:p.Gly627Arg
NM_001289004.1:c.1693G>A	NP_001275933.1:p.Gly565Arg
NM_001308014.1:c.1120G>A	NP_001294943.1:p.Gly374Arg
NM_173488.4:c.1879G>A	NP_775759.3:p.Gly627Arg
XM_005271874.2:c.1879G>A	XP_005271931.1:p.Gly627Arg
XM_011543147.1:c.1774G>A	XP_011541449.1:p.Gly592Arg
XM_011543148.1:c.1642G>A	XP_011541450.1:p.Gly548Arg
XM_011543149.1:c.1306G>A	XP_011541451.1:p.Gly436Arg
XM_011543150.1:c.1150G>A	XP_011541452.1:p.Gly384Arg
XM_011543151.1:c.1120G>A	XP_011541453.1:p.Gly374Arg
XM_011543153.1:c.1057G>A	XP_011541455.1:p.Gly353Arg
XM_005271874.3:c.1879G>A	XP_005271931.1:p.Gly627Arg
XM_011543147.2:c.1774G>A	XP_011541449.1:p.Gly592Arg
XM_011543148.2:c.1642G>A	XP_011541450.1:p.Gly548Arg
XM_011543153.2:c.1057G>A	XP_011541455.1:p.Gly353Arg
NM_001289002.2:c.1879G>A	NP_001275931.1:p.Gly627Arg
NM_001289004.2:c.1693G>A	NP_001275933.1:p.Gly565Arg
NM_001308014.2:c.1120G>A	NP_001294943.1:p.Gly374Arg
NM_173488.5:c.1879G>A MANE Select	NP_775759.3:p.Gly627Arg