Canonical Allele Identifier: CA360573847

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726696A>T (hg19) ; chr5:g.102390992A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390992A>T , CM000667.2:g.102390992A>T	GRCh38
NC_000005.9:g.101726696A>T , CM000667.1:g.101726696A>T	GRCh37
NC_000005.8:g.101754595A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1868T>A MANE Select	ENSP00000421339.1:p.Leu623Ter
ENST00000379807.7:c.1868T>A	ENSP00000369135.3:p.Leu623Ter
ENST00000389019.7:c.1682T>A	ENSP00000373671.3:p.Leu561Ter
ENST00000506729.5:c.1868T>A	ENSP00000421339.1:p.Leu623Ter
ENST00000513675.1:c.1109T>A	ENSP00000421990.1:p.Leu370Ter
ENST00000514765.6:n.238T>A
NM_001289002.1:c.1868T>A	NP_001275931.1:p.Leu623Ter
NM_001289004.1:c.1682T>A	NP_001275933.1:p.Leu561Ter
NM_001308014.1:c.1109T>A	NP_001294943.1:p.Leu370Ter
NM_173488.4:c.1868T>A	NP_775759.3:p.Leu623Ter
XM_005271874.2:c.1868T>A	XP_005271931.1:p.Leu623Ter
XM_011543147.1:c.1763T>A	XP_011541449.1:p.Leu588Ter
XM_011543148.1:c.1631T>A	XP_011541450.1:p.Leu544Ter
XM_011543149.1:c.1295T>A	XP_011541451.1:p.Leu432Ter
XM_011543150.1:c.1139T>A	XP_011541452.1:p.Leu380Ter
XM_011543151.1:c.1109T>A	XP_011541453.1:p.Leu370Ter
XM_011543153.1:c.1046T>A	XP_011541455.1:p.Leu349Ter
XM_005271874.3:c.1868T>A	XP_005271931.1:p.Leu623Ter
XM_011543147.2:c.1763T>A	XP_011541449.1:p.Leu588Ter
XM_011543148.2:c.1631T>A	XP_011541450.1:p.Leu544Ter
XM_011543153.2:c.1046T>A	XP_011541455.1:p.Leu349Ter
NM_001289002.2:c.1868T>A	NP_001275931.1:p.Leu623Ter
NM_001289004.2:c.1682T>A	NP_001275933.1:p.Leu561Ter
NM_001308014.2:c.1109T>A	NP_001294943.1:p.Leu370Ter
NM_173488.5:c.1868T>A MANE Select	NP_775759.3:p.Leu623Ter