Canonical Allele Identifier: CA408563700

Gene: ASXL1

Linked Data

• COSMIC: COSM1025734
• MyVariant Identifiers: chr20:g.31024252T>A (hg19) ; chr20:g.32436449T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436449T>A , CM000682.2:g.32436449T>A	GRCh38
NC_000020.10:g.31024252T>A , CM000682.1:g.31024252T>A	GRCh37
NC_000020.9:g.30487913T>A	NCBI36
NG_027868.1:g.83106T>A , LRG_630:g.83106T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3737T>A MANE Select	ENSP00000364839.4:p.Val1246Asp
ENST00000646985.1:c.3554T>A	ENSP00000495053.1:p.Val1185Asp
ENST00000647223.1:n.6090T>A
ENST00000651418.1:c.1869+1868T>A	ENSP00000499150.1:n.1869+1868T>A
ENST00000306058.9:c.3722T>A	ENSP00000305119.5:p.Val1241Asp
ENST00000375687.8:c.3737T>A	ENSP00000364839.4:p.Val1246Asp
ENST00000613218.4:c.3737T>A	ENSP00000480487.1:p.Val1246Asp
ENST00000620121.4:c.3737T>A	ENSP00000481978.1:p.Val1246Asp
NM_015338.5:c.3737T>A , LRG_630t1:c.3737T>A	NP_056153.2:p.Val1246Asp
XM_006723727.2:c.3734T>A	XP_006723790.1:p.Val1245Asp
XM_006723728.2:c.3707T>A	XP_006723791.1:p.Val1236Asp
XM_006723730.2:c.3653T>A	XP_006723793.1:p.Val1218Asp
XM_006723732.2:c.3554T>A	XP_006723795.1:p.Val1185Asp
XM_006723733.1:c.3053T>A	XP_006723796.1:p.Val1018Asp
XM_011528647.1:c.4001T>A	XP_011526949.1:p.Val1334Asp
XM_011528648.1:c.3998T>A	XP_011526950.1:p.Val1333Asp
XM_011528649.1:c.3917T>A	XP_011526951.1:p.Val1306Asp
XM_011528650.1:c.3848T>A	XP_011526952.1:p.Val1283Asp
XM_011528651.1:c.3716T>A	XP_011526953.1:p.Val1239Asp
XM_011528652.1:c.3653T>A	XP_011526954.1:p.Val1218Asp
NM_001363734.1:c.3554T>A	NP_001350663.1:p.Val1185Asp
XM_006723727.3:c.3734T>A	XP_006723790.1:p.Val1245Asp
XM_006723728.3:c.3707T>A	XP_006723791.1:p.Val1236Asp
XM_006723730.4:c.3653T>A	XP_006723793.1:p.Val1218Asp
XM_011528648.3:c.3998T>A	XP_011526950.1:p.Val1333Asp
XM_011528652.2:c.3653T>A	XP_011526954.1:p.Val1218Asp
XM_017027704.1:c.3653T>A	XP_016883193.1:p.Val1218Asp
XM_017027705.1:c.3653T>A	XP_016883194.1:p.Val1218Asp
XM_017027706.1:c.3584T>A	XP_016883195.1:p.Val1195Asp
NM_015338.6:c.3737T>A MANE Select	NP_056153.2:p.Val1246Asp