Canonical Allele Identifier: CA408562774

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011833295
• gnomAD v3: 20-32436013-G-A
• gnomAD v4: 20-32436013-G-A
• MyVariant Identifiers: chr20:g.31023816G>A (hg19) ; chr20:g.32436013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436013G>A , CM000682.2:g.32436013G>A	GRCh38
NC_000020.10:g.31023816G>A , CM000682.1:g.31023816G>A	GRCh37
NC_000020.9:g.30487477G>A	NCBI36
NG_027868.1:g.82670G>A , LRG_630:g.82670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3301G>A MANE Select	ENSP00000364839.4:p.Val1101Met
ENST00000646985.1:c.3118G>A	ENSP00000495053.1:p.Val1040Met
ENST00000647223.1:n.5654G>A
ENST00000651418.1:c.1869+1432G>A	ENSP00000499150.1:n.1869+1432G>A
ENST00000306058.9:c.3286G>A	ENSP00000305119.5:p.Val1096Met
ENST00000375687.8:c.3301G>A	ENSP00000364839.4:p.Val1101Met
ENST00000613218.4:c.3301G>A	ENSP00000480487.1:p.Val1101Met
ENST00000620121.4:c.3301G>A	ENSP00000481978.1:p.Val1101Met
NM_015338.5:c.3301G>A , LRG_630t1:c.3301G>A	NP_056153.2:p.Val1101Met
XM_006723727.2:c.3298G>A	XP_006723790.1:p.Val1100Met
XM_006723728.2:c.3271G>A	XP_006723791.1:p.Val1091Met
XM_006723730.2:c.3217G>A	XP_006723793.1:p.Val1073Met
XM_006723732.2:c.3118G>A	XP_006723795.1:p.Val1040Met
XM_006723733.1:c.2617G>A	XP_006723796.1:p.Val873Met
XM_011528647.1:c.3565G>A	XP_011526949.1:p.Val1189Met
XM_011528648.1:c.3562G>A	XP_011526950.1:p.Val1188Met
XM_011528649.1:c.3481G>A	XP_011526951.1:p.Val1161Met
XM_011528650.1:c.3412G>A	XP_011526952.1:p.Val1138Met
XM_011528651.1:c.3280G>A	XP_011526953.1:p.Val1094Met
XM_011528652.1:c.3217G>A	XP_011526954.1:p.Val1073Met
NM_001363734.1:c.3118G>A	NP_001350663.1:p.Val1040Met
XM_006723727.3:c.3298G>A	XP_006723790.1:p.Val1100Met
XM_006723728.3:c.3271G>A	XP_006723791.1:p.Val1091Met
XM_006723730.4:c.3217G>A	XP_006723793.1:p.Val1073Met
XM_011528648.3:c.3562G>A	XP_011526950.1:p.Val1188Met
XM_011528652.2:c.3217G>A	XP_011526954.1:p.Val1073Met
XM_017027704.1:c.3217G>A	XP_016883193.1:p.Val1073Met
XM_017027705.1:c.3217G>A	XP_016883194.1:p.Val1073Met
XM_017027706.1:c.3148G>A	XP_016883195.1:p.Val1050Met
NM_015338.6:c.3301G>A MANE Select	NP_056153.2:p.Val1101Met