Canonical Allele Identifier: CA410355738

Gene: ABCG1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42282350G>A , CM000683.2:g.42282350G>A	GRCh38
NC_000021.8:g.43702460G>A , CM000683.1:g.43702460G>A	GRCh37
NC_000021.7:g.42575529G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016818.3:c.665G>A MANE Select	NP_058198.2:p.Arg222His
ENST00000398449.8:c.665G>A MANE Select	ENSP00000381467.3:p.Arg222His
NM_004915.3:c.665G>A	NP_004906.3:p.Arg222His
NM_004915.4:c.665G>A	NP_004906.3:p.Arg222His
NM_016818.2:c.665G>A	NP_058198.2:p.Arg222His
NM_207174.1:c.698G>A	NP_997057.1:p.Arg233His
NM_207627.1:c.671G>A	NP_997510.1:p.Arg224His
NM_207627.2:c.671G>A	NP_997510.1:p.Arg224His
NM_207628.1:c.599G>A	NP_997511.1:p.Arg200His
NM_207629.1:c.656G>A	NP_997512.1:p.Arg219His
NM_207629.2:c.656G>A	NP_997512.1:p.Arg219His
ENST00000343687.7:c.698G>A	ENSP00000339744.3:p.Arg233His
ENST00000347800.6:c.656G>A	ENSP00000291524.4:p.Arg219His
ENST00000361802.6:c.665G>A	ENSP00000354995.2:p.Arg222His
ENST00000398437.1:c.1103G>A	ENSP00000381464.1:p.Arg368His
ENST00000398449.7:c.665G>A	ENSP00000381467.3:p.Arg222His
ENST00000398457.6:c.671G>A	ENSP00000381475.2:p.Arg224His
ENST00000450121.5:c.614G>A	ENSP00000414541.1:p.Arg205His
ENST00000462050.5:n.849G>A
ENST00000467818.1:n.337G>A
ENST00000472587.5:n.679G>A
XM_011529806.1:c.698G>A	XP_011528108.1:p.Arg233His
XM_011529807.1:c.698G>A	XP_011528109.1:p.Arg233His
XM_011529807.3:c.698G>A	XP_011528109.1:p.Arg233His
XM_024452141.1:c.989G>A	XP_024307909.1:p.Arg330His