Canonical Allele Identifier: CA408562891

Gene: ASXL1

Linked Data

• dbSNP Id: rs1450882082
• gnomAD v2: 20-31023872-G-C
• gnomAD v4: 20-32436069-G-C
• MyVariant Identifiers: chr20:g.31023872G>C (hg19) ; chr20:g.32436069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436069G>C , CM000682.2:g.32436069G>C	GRCh38
NC_000020.10:g.31023872G>C , CM000682.1:g.31023872G>C	GRCh37
NC_000020.9:g.30487533G>C	NCBI36
NG_027868.1:g.82726G>C , LRG_630:g.82726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3357G>C MANE Select	ENSP00000364839.4:p.Glu1119Asp
ENST00000646985.1:c.3174G>C	ENSP00000495053.1:p.Glu1058Asp
ENST00000647223.1:n.5710G>C
ENST00000651418.1:c.1869+1488G>C	ENSP00000499150.1:n.1869+1488G>C
ENST00000306058.9:c.3342G>C	ENSP00000305119.5:p.Glu1114Asp
ENST00000375687.8:c.3357G>C	ENSP00000364839.4:p.Glu1119Asp
ENST00000613218.4:c.3357G>C	ENSP00000480487.1:p.Glu1119Asp
ENST00000620121.4:c.3357G>C	ENSP00000481978.1:p.Glu1119Asp
NM_015338.5:c.3357G>C , LRG_630t1:c.3357G>C	NP_056153.2:p.Glu1119Asp
XM_006723727.2:c.3354G>C	XP_006723790.1:p.Glu1118Asp
XM_006723728.2:c.3327G>C	XP_006723791.1:p.Glu1109Asp
XM_006723730.2:c.3273G>C	XP_006723793.1:p.Glu1091Asp
XM_006723732.2:c.3174G>C	XP_006723795.1:p.Glu1058Asp
XM_006723733.1:c.2673G>C	XP_006723796.1:p.Glu891Asp
XM_011528647.1:c.3621G>C	XP_011526949.1:p.Glu1207Asp
XM_011528648.1:c.3618G>C	XP_011526950.1:p.Glu1206Asp
XM_011528649.1:c.3537G>C	XP_011526951.1:p.Glu1179Asp
XM_011528650.1:c.3468G>C	XP_011526952.1:p.Glu1156Asp
XM_011528651.1:c.3336G>C	XP_011526953.1:p.Glu1112Asp
XM_011528652.1:c.3273G>C	XP_011526954.1:p.Glu1091Asp
NM_001363734.1:c.3174G>C	NP_001350663.1:p.Glu1058Asp
XM_006723727.3:c.3354G>C	XP_006723790.1:p.Glu1118Asp
XM_006723728.3:c.3327G>C	XP_006723791.1:p.Glu1109Asp
XM_006723730.4:c.3273G>C	XP_006723793.1:p.Glu1091Asp
XM_011528648.3:c.3618G>C	XP_011526950.1:p.Glu1206Asp
XM_011528652.2:c.3273G>C	XP_011526954.1:p.Glu1091Asp
XM_017027704.1:c.3273G>C	XP_016883193.1:p.Glu1091Asp
XM_017027705.1:c.3273G>C	XP_016883194.1:p.Glu1091Asp
XM_017027706.1:c.3204G>C	XP_016883195.1:p.Glu1068Asp
NM_015338.6:c.3357G>C MANE Select	NP_056153.2:p.Glu1119Asp