Canonical Allele Identifier: CA9808947

Gene: ASXL1

Linked Data

• dbSNP Id: rs370510519
• ExAC: 20:31024531 G / A
• gnomAD v2: 20-31024531-G-A
• gnomAD v4: 20-32436728-G-A
• COSMIC: COSM159233
• MyVariant Identifiers: chr20:g.31024531G>A (hg19) ; chr20:g.32436728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436728G>A , CM000682.2:g.32436728G>A	GRCh38
NC_000020.10:g.31024531G>A , CM000682.1:g.31024531G>A	GRCh37
NC_000020.9:g.30488192G>A	NCBI36
NG_027868.1:g.83385G>A , LRG_630:g.83385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4016G>A MANE Select	ENSP00000364839.4:p.Gly1339Glu
ENST00000646985.1:c.3833G>A	ENSP00000495053.1:p.Gly1278Glu
ENST00000647223.1:n.6369G>A
ENST00000651418.1:c.1870-1702G>A	ENSP00000499150.1:n.1870-1702G>A
ENST00000306058.9:c.4001G>A	ENSP00000305119.5:p.Gly1334Glu
ENST00000375687.8:c.4016G>A	ENSP00000364839.4:p.Gly1339Glu
ENST00000613218.4:c.4016G>A	ENSP00000480487.1:p.Gly1339Glu
ENST00000620121.4:c.4016G>A	ENSP00000481978.1:p.Gly1339Glu
NM_015338.5:c.4016G>A , LRG_630t1:c.4016G>A	NP_056153.2:p.Gly1339Glu
XM_006723727.2:c.4013G>A	XP_006723790.1:p.Gly1338Glu
XM_006723728.2:c.3986G>A	XP_006723791.1:p.Gly1329Glu
XM_006723730.2:c.3932G>A	XP_006723793.1:p.Gly1311Glu
XM_006723732.2:c.3833G>A	XP_006723795.1:p.Gly1278Glu
XM_006723733.1:c.3332G>A	XP_006723796.1:p.Gly1111Glu
XM_011528647.1:c.4280G>A	XP_011526949.1:p.Gly1427Glu
XM_011528648.1:c.4277G>A	XP_011526950.1:p.Gly1426Glu
XM_011528649.1:c.4196G>A	XP_011526951.1:p.Gly1399Glu
XM_011528650.1:c.4127G>A	XP_011526952.1:p.Gly1376Glu
XM_011528651.1:c.3995G>A	XP_011526953.1:p.Gly1332Glu
XM_011528652.1:c.3932G>A	XP_011526954.1:p.Gly1311Glu
NM_001363734.1:c.3833G>A	NP_001350663.1:p.Gly1278Glu
XM_006723727.3:c.4013G>A	XP_006723790.1:p.Gly1338Glu
XM_006723728.3:c.3986G>A	XP_006723791.1:p.Gly1329Glu
XM_006723730.4:c.3932G>A	XP_006723793.1:p.Gly1311Glu
XM_011528648.3:c.4277G>A	XP_011526950.1:p.Gly1426Glu
XM_011528652.2:c.3932G>A	XP_011526954.1:p.Gly1311Glu
XM_017027704.1:c.3932G>A	XP_016883193.1:p.Gly1311Glu
XM_017027705.1:c.3932G>A	XP_016883194.1:p.Gly1311Glu
XM_017027706.1:c.3863G>A	XP_016883195.1:p.Gly1288Glu
NM_015338.6:c.4016G>A MANE Select	NP_056153.2:p.Gly1339Glu