Canonical Allele Identifier: CA360573832

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726693C>A (hg19) ; chr5:g.102390989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390989C>A , CM000667.2:g.102390989C>A	GRCh38
NC_000005.9:g.101726693C>A , CM000667.1:g.101726693C>A	GRCh37
NC_000005.8:g.101754592C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506729.6:c.1871G>T MANE Select	ENSP00000421339.1:p.Arg624Ile
ENST00000379807.7:c.1871G>T	ENSP00000369135.3:p.Arg624Ile
ENST00000389019.7:c.1685G>T	ENSP00000373671.3:p.Arg562Ile
ENST00000506729.5:c.1871G>T	ENSP00000421339.1:p.Arg624Ile
ENST00000513675.1:c.1112G>T	ENSP00000421990.1:p.Arg371Ile
ENST00000514765.6:n.241G>T
NM_001289002.1:c.1871G>T	NP_001275931.1:p.Arg624Ile
NM_001289004.1:c.1685G>T	NP_001275933.1:p.Arg562Ile
NM_001308014.1:c.1112G>T	NP_001294943.1:p.Arg371Ile
NM_173488.4:c.1871G>T	NP_775759.3:p.Arg624Ile
XM_005271874.2:c.1871G>T	XP_005271931.1:p.Arg624Ile
XM_011543147.1:c.1766G>T	XP_011541449.1:p.Arg589Ile
XM_011543148.1:c.1634G>T	XP_011541450.1:p.Arg545Ile
XM_011543149.1:c.1298G>T	XP_011541451.1:p.Arg433Ile
XM_011543150.1:c.1142G>T	XP_011541452.1:p.Arg381Ile
XM_011543151.1:c.1112G>T	XP_011541453.1:p.Arg371Ile
XM_011543153.1:c.1049G>T	XP_011541455.1:p.Arg350Ile
XM_005271874.3:c.1871G>T	XP_005271931.1:p.Arg624Ile
XM_011543147.2:c.1766G>T	XP_011541449.1:p.Arg589Ile
XM_011543148.2:c.1634G>T	XP_011541450.1:p.Arg545Ile
XM_011543153.2:c.1049G>T	XP_011541455.1:p.Arg350Ile
NM_001289002.2:c.1871G>T	NP_001275931.1:p.Arg624Ile
NM_001289004.2:c.1685G>T	NP_001275933.1:p.Arg562Ile
NM_001308014.2:c.1112G>T	NP_001294943.1:p.Arg371Ile
NM_173488.5:c.1871G>T MANE Select	NP_775759.3:p.Arg624Ile