Canonical Allele Identifier: CA360573929

Gene: SLCO6A1

Linked Data

• MyVariant Identifiers: chr5:g.101726715C>G (hg19) ; chr5:g.102391011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.102391011C>G , CM000667.2:g.102391011C>G	GRCh38
NC_000005.9:g.101726715C>G , CM000667.1:g.101726715C>G	GRCh37
NC_000005.8:g.101754614C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506729.6:c.1849G>C MANE Select	ENSP00000421339.1:p.Gly617Arg
ENST00000379807.7:c.1849G>C	ENSP00000369135.3:p.Gly617Arg
ENST00000389019.7:c.1663G>C	ENSP00000373671.3:p.Gly555Arg
ENST00000506729.5:c.1849G>C	ENSP00000421339.1:p.Gly617Arg
ENST00000513675.1:c.1090G>C	ENSP00000421990.1:p.Gly364Arg
ENST00000514765.6:n.219G>C
NM_001289002.1:c.1849G>C	NP_001275931.1:p.Gly617Arg
NM_001289004.1:c.1663G>C	NP_001275933.1:p.Gly555Arg
NM_001308014.1:c.1090G>C	NP_001294943.1:p.Gly364Arg
NM_173488.4:c.1849G>C	NP_775759.3:p.Gly617Arg
XM_005271874.2:c.1849G>C	XP_005271931.1:p.Gly617Arg
XM_011543147.1:c.1744G>C	XP_011541449.1:p.Gly582Arg
XM_011543148.1:c.1612G>C	XP_011541450.1:p.Gly538Arg
XM_011543149.1:c.1276G>C	XP_011541451.1:p.Gly426Arg
XM_011543150.1:c.1120G>C	XP_011541452.1:p.Gly374Arg
XM_011543151.1:c.1090G>C	XP_011541453.1:p.Gly364Arg
XM_011543153.1:c.1027G>C	XP_011541455.1:p.Gly343Arg
XM_005271874.3:c.1849G>C	XP_005271931.1:p.Gly617Arg
XM_011543147.2:c.1744G>C	XP_011541449.1:p.Gly582Arg
XM_011543148.2:c.1612G>C	XP_011541450.1:p.Gly538Arg
XM_011543153.2:c.1027G>C	XP_011541455.1:p.Gly343Arg
NM_001289002.2:c.1849G>C	NP_001275931.1:p.Gly617Arg
NM_001289004.2:c.1663G>C	NP_001275933.1:p.Gly555Arg
NM_001308014.2:c.1090G>C	NP_001294943.1:p.Gly364Arg
NM_173488.5:c.1849G>C MANE Select	NP_775759.3:p.Gly617Arg