Canonical Allele Identifier: CA408563366

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436296-A-G
• MyVariant Identifiers: chr20:g.31024099A>G (hg19) ; chr20:g.32436296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436296A>G , CM000682.2:g.32436296A>G	GRCh38
NC_000020.10:g.31024099A>G , CM000682.1:g.31024099A>G	GRCh37
NC_000020.9:g.30487760A>G	NCBI36
NG_027868.1:g.82953A>G , LRG_630:g.82953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3584A>G MANE Select	ENSP00000364839.4:p.Gln1195Arg
ENST00000646985.1:c.3401A>G	ENSP00000495053.1:p.Gln1134Arg
ENST00000647223.1:n.5937A>G
ENST00000651418.1:c.1869+1715A>G	ENSP00000499150.1:n.1869+1715A>G
ENST00000306058.9:c.3569A>G	ENSP00000305119.5:p.Gln1190Arg
ENST00000375687.8:c.3584A>G	ENSP00000364839.4:p.Gln1195Arg
ENST00000613218.4:c.3584A>G	ENSP00000480487.1:p.Gln1195Arg
ENST00000620121.4:c.3584A>G	ENSP00000481978.1:p.Gln1195Arg
NM_015338.5:c.3584A>G , LRG_630t1:c.3584A>G	NP_056153.2:p.Gln1195Arg
XM_006723727.2:c.3581A>G	XP_006723790.1:p.Gln1194Arg
XM_006723728.2:c.3554A>G	XP_006723791.1:p.Gln1185Arg
XM_006723730.2:c.3500A>G	XP_006723793.1:p.Gln1167Arg
XM_006723732.2:c.3401A>G	XP_006723795.1:p.Gln1134Arg
XM_006723733.1:c.2900A>G	XP_006723796.1:p.Gln967Arg
XM_011528647.1:c.3848A>G	XP_011526949.1:p.Gln1283Arg
XM_011528648.1:c.3845A>G	XP_011526950.1:p.Gln1282Arg
XM_011528649.1:c.3764A>G	XP_011526951.1:p.Gln1255Arg
XM_011528650.1:c.3695A>G	XP_011526952.1:p.Gln1232Arg
XM_011528651.1:c.3563A>G	XP_011526953.1:p.Gln1188Arg
XM_011528652.1:c.3500A>G	XP_011526954.1:p.Gln1167Arg
NM_001363734.1:c.3401A>G	NP_001350663.1:p.Gln1134Arg
XM_006723727.3:c.3581A>G	XP_006723790.1:p.Gln1194Arg
XM_006723728.3:c.3554A>G	XP_006723791.1:p.Gln1185Arg
XM_006723730.4:c.3500A>G	XP_006723793.1:p.Gln1167Arg
XM_011528648.3:c.3845A>G	XP_011526950.1:p.Gln1282Arg
XM_011528652.2:c.3500A>G	XP_011526954.1:p.Gln1167Arg
XM_017027704.1:c.3500A>G	XP_016883193.1:p.Gln1167Arg
XM_017027705.1:c.3500A>G	XP_016883194.1:p.Gln1167Arg
XM_017027706.1:c.3431A>G	XP_016883195.1:p.Gln1144Arg
NM_015338.6:c.3584A>G MANE Select	NP_056153.2:p.Gln1195Arg