Canonical Allele Identifier: CA408564313

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436751-G-T
• MyVariant Identifiers: chr20:g.31024554G>T (hg19) ; chr20:g.32436751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436751G>T , CM000682.2:g.32436751G>T	GRCh38
NC_000020.10:g.31024554G>T , CM000682.1:g.31024554G>T	GRCh37
NC_000020.9:g.30488215G>T	NCBI36
NG_027868.1:g.83408G>T , LRG_630:g.83408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4039G>T MANE Select	ENSP00000364839.4:p.Gly1347Cys
ENST00000646985.1:c.3856G>T	ENSP00000495053.1:p.Gly1286Cys
ENST00000647223.1:n.6392G>T
ENST00000651418.1:c.1870-1679G>T	ENSP00000499150.1:n.1870-1679G>T
ENST00000306058.9:c.4024G>T	ENSP00000305119.5:p.Gly1342Cys
ENST00000375687.8:c.4039G>T	ENSP00000364839.4:p.Gly1347Cys
ENST00000613218.4:c.4039G>T	ENSP00000480487.1:p.Gly1347Cys
ENST00000620121.4:c.4039G>T	ENSP00000481978.1:p.Gly1347Cys
NM_015338.5:c.4039G>T , LRG_630t1:c.4039G>T	NP_056153.2:p.Gly1347Cys
XM_006723727.2:c.4036G>T	XP_006723790.1:p.Gly1346Cys
XM_006723728.2:c.4009G>T	XP_006723791.1:p.Gly1337Cys
XM_006723730.2:c.3955G>T	XP_006723793.1:p.Gly1319Cys
XM_006723732.2:c.3856G>T	XP_006723795.1:p.Gly1286Cys
XM_006723733.1:c.3355G>T	XP_006723796.1:p.Gly1119Cys
XM_011528647.1:c.4303G>T	XP_011526949.1:p.Gly1435Cys
XM_011528648.1:c.4300G>T	XP_011526950.1:p.Gly1434Cys
XM_011528649.1:c.4219G>T	XP_011526951.1:p.Gly1407Cys
XM_011528650.1:c.4150G>T	XP_011526952.1:p.Gly1384Cys
XM_011528651.1:c.4018G>T	XP_011526953.1:p.Gly1340Cys
XM_011528652.1:c.3955G>T	XP_011526954.1:p.Gly1319Cys
NM_001363734.1:c.3856G>T	NP_001350663.1:p.Gly1286Cys
XM_006723727.3:c.4036G>T	XP_006723790.1:p.Gly1346Cys
XM_006723728.3:c.4009G>T	XP_006723791.1:p.Gly1337Cys
XM_006723730.4:c.3955G>T	XP_006723793.1:p.Gly1319Cys
XM_011528648.3:c.4300G>T	XP_011526950.1:p.Gly1434Cys
XM_011528652.2:c.3955G>T	XP_011526954.1:p.Gly1319Cys
XM_017027704.1:c.3955G>T	XP_016883193.1:p.Gly1319Cys
XM_017027705.1:c.3955G>T	XP_016883194.1:p.Gly1319Cys
XM_017027706.1:c.3886G>T	XP_016883195.1:p.Gly1296Cys
NM_015338.6:c.4039G>T MANE Select	NP_056153.2:p.Gly1347Cys