Canonical Allele Identifier: CA9808828

Gene: ASXL1

Linked Data

• dbSNP Id: rs374632491
• ExAC: 20:31023963 G / C
• gnomAD v2: 20-31023963-G-C
• gnomAD v3: 20-32436160-G-C
• gnomAD v4: 20-32436160-G-C
• MyVariant Identifiers: chr20:g.31023963G>C (hg19) ; chr20:g.32436160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436160G>C , CM000682.2:g.32436160G>C	GRCh38
NC_000020.10:g.31023963G>C , CM000682.1:g.31023963G>C	GRCh37
NC_000020.9:g.30487624G>C	NCBI36
NG_027868.1:g.82817G>C , LRG_630:g.82817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3448G>C MANE Select	ENSP00000364839.4:p.Gly1150Arg
ENST00000646985.1:c.3265G>C	ENSP00000495053.1:p.Gly1089Arg
ENST00000647223.1:n.5801G>C
ENST00000651418.1:c.1869+1579G>C	ENSP00000499150.1:n.1869+1579G>C
ENST00000306058.9:c.3433G>C	ENSP00000305119.5:p.Gly1145Arg
ENST00000375687.8:c.3448G>C	ENSP00000364839.4:p.Gly1150Arg
ENST00000613218.4:c.3448G>C	ENSP00000480487.1:p.Gly1150Arg
ENST00000620121.4:c.3448G>C	ENSP00000481978.1:p.Gly1150Arg
NM_015338.5:c.3448G>C , LRG_630t1:c.3448G>C	NP_056153.2:p.Gly1150Arg
XM_006723727.2:c.3445G>C	XP_006723790.1:p.Gly1149Arg
XM_006723728.2:c.3418G>C	XP_006723791.1:p.Gly1140Arg
XM_006723730.2:c.3364G>C	XP_006723793.1:p.Gly1122Arg
XM_006723732.2:c.3265G>C	XP_006723795.1:p.Gly1089Arg
XM_006723733.1:c.2764G>C	XP_006723796.1:p.Gly922Arg
XM_011528647.1:c.3712G>C	XP_011526949.1:p.Gly1238Arg
XM_011528648.1:c.3709G>C	XP_011526950.1:p.Gly1237Arg
XM_011528649.1:c.3628G>C	XP_011526951.1:p.Gly1210Arg
XM_011528650.1:c.3559G>C	XP_011526952.1:p.Gly1187Arg
XM_011528651.1:c.3427G>C	XP_011526953.1:p.Gly1143Arg
XM_011528652.1:c.3364G>C	XP_011526954.1:p.Gly1122Arg
NM_001363734.1:c.3265G>C	NP_001350663.1:p.Gly1089Arg
XM_006723727.3:c.3445G>C	XP_006723790.1:p.Gly1149Arg
XM_006723728.3:c.3418G>C	XP_006723791.1:p.Gly1140Arg
XM_006723730.4:c.3364G>C	XP_006723793.1:p.Gly1122Arg
XM_011528648.3:c.3709G>C	XP_011526950.1:p.Gly1237Arg
XM_011528652.2:c.3364G>C	XP_011526954.1:p.Gly1122Arg
XM_017027704.1:c.3364G>C	XP_016883193.1:p.Gly1122Arg
XM_017027705.1:c.3364G>C	XP_016883194.1:p.Gly1122Arg
XM_017027706.1:c.3295G>C	XP_016883195.1:p.Gly1099Arg
NM_015338.6:c.3448G>C MANE Select	NP_056153.2:p.Gly1150Arg