Canonical Allele Identifier: CA360573819

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726690A>C (hg19) ; chr5:g.102390986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102390986A>C , CM000667.2:g.102390986A>C	GRCh38
NC_000005.9:g.101726690A>C , CM000667.1:g.101726690A>C	GRCh37
NC_000005.8:g.101754589A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506729.6:c.1874T>G MANE Select	ENSP00000421339.1:p.Ile625Arg
ENST00000379807.7:c.1874T>G	ENSP00000369135.3:p.Ile625Arg
ENST00000389019.7:c.1688T>G	ENSP00000373671.3:p.Ile563Arg
ENST00000506729.5:c.1874T>G	ENSP00000421339.1:p.Ile625Arg
ENST00000513675.1:c.1115T>G	ENSP00000421990.1:p.Ile372Arg
ENST00000514765.6:n.244T>G
NM_001289002.1:c.1874T>G	NP_001275931.1:p.Ile625Arg
NM_001289004.1:c.1688T>G	NP_001275933.1:p.Ile563Arg
NM_001308014.1:c.1115T>G	NP_001294943.1:p.Ile372Arg
NM_173488.4:c.1874T>G	NP_775759.3:p.Ile625Arg
XM_005271874.2:c.1874T>G	XP_005271931.1:p.Ile625Arg
XM_011543147.1:c.1769T>G	XP_011541449.1:p.Ile590Arg
XM_011543148.1:c.1637T>G	XP_011541450.1:p.Ile546Arg
XM_011543149.1:c.1301T>G	XP_011541451.1:p.Ile434Arg
XM_011543150.1:c.1145T>G	XP_011541452.1:p.Ile382Arg
XM_011543151.1:c.1115T>G	XP_011541453.1:p.Ile372Arg
XM_011543153.1:c.1052T>G	XP_011541455.1:p.Ile351Arg
XM_005271874.3:c.1874T>G	XP_005271931.1:p.Ile625Arg
XM_011543147.2:c.1769T>G	XP_011541449.1:p.Ile590Arg
XM_011543148.2:c.1637T>G	XP_011541450.1:p.Ile546Arg
XM_011543153.2:c.1052T>G	XP_011541455.1:p.Ile351Arg
NM_001289002.2:c.1874T>G	NP_001275931.1:p.Ile625Arg
NM_001289004.2:c.1688T>G	NP_001275933.1:p.Ile563Arg
NM_001308014.2:c.1115T>G	NP_001294943.1:p.Ile372Arg
NM_173488.5:c.1874T>G MANE Select	NP_775759.3:p.Ile625Arg