Canonical Allele Identifier: CA360573915

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726712C>A (hg19) ; chr5:g.102391008C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391008C>A , CM000667.2:g.102391008C>A	GRCh38
NC_000005.9:g.101726712C>A , CM000667.1:g.101726712C>A	GRCh37
NC_000005.8:g.101754611C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1852G>T MANE Select	ENSP00000421339.1:p.Val618Leu
ENST00000379807.7:c.1852G>T	ENSP00000369135.3:p.Val618Leu
ENST00000389019.7:c.1666G>T	ENSP00000373671.3:p.Val556Leu
ENST00000506729.5:c.1852G>T	ENSP00000421339.1:p.Val618Leu
ENST00000513675.1:c.1093G>T	ENSP00000421990.1:p.Val365Leu
ENST00000514765.6:n.222G>T
NM_001289002.1:c.1852G>T	NP_001275931.1:p.Val618Leu
NM_001289004.1:c.1666G>T	NP_001275933.1:p.Val556Leu
NM_001308014.1:c.1093G>T	NP_001294943.1:p.Val365Leu
NM_173488.4:c.1852G>T	NP_775759.3:p.Val618Leu
XM_005271874.2:c.1852G>T	XP_005271931.1:p.Val618Leu
XM_011543147.1:c.1747G>T	XP_011541449.1:p.Val583Leu
XM_011543148.1:c.1615G>T	XP_011541450.1:p.Val539Leu
XM_011543149.1:c.1279G>T	XP_011541451.1:p.Val427Leu
XM_011543150.1:c.1123G>T	XP_011541452.1:p.Val375Leu
XM_011543151.1:c.1093G>T	XP_011541453.1:p.Val365Leu
XM_011543153.1:c.1030G>T	XP_011541455.1:p.Val344Leu
XM_005271874.3:c.1852G>T	XP_005271931.1:p.Val618Leu
XM_011543147.2:c.1747G>T	XP_011541449.1:p.Val583Leu
XM_011543148.2:c.1615G>T	XP_011541450.1:p.Val539Leu
XM_011543153.2:c.1030G>T	XP_011541455.1:p.Val344Leu
NM_001289002.2:c.1852G>T	NP_001275931.1:p.Val618Leu
NM_001289004.2:c.1666G>T	NP_001275933.1:p.Val556Leu
NM_001308014.2:c.1093G>T	NP_001294943.1:p.Val365Leu
NM_173488.5:c.1852G>T MANE Select	NP_775759.3:p.Val618Leu