Canonical Allele Identifier: CA510200431

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32428187-C-T
• MyVariant Identifiers: chr20:g.31015990C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428187C>T , CM000682.2:g.32428187C>T	GRCh38
NC_000020.10:g.31015990C>T , CM000682.1:g.31015990C>T	GRCh37
NC_000020.9:g.30479651C>T	NCBI36
NG_027868.1:g.74844C>T , LRG_630:g.74844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.312C>T MANE Select	ENSP00000364839.4:p.Asp104=
ENST00000470145.3:n.255C>T
ENST00000643168.1:c.228C>T	ENSP00000495003.1:p.Asp76=
ENST00000644060.1:n.1116C>T
ENST00000644587.1:c.*151C>T	ENSP00000494813.1:n.*151C>T
ENST00000644615.1:n.16C>T
ENST00000645514.1:n.60C>T
ENST00000645688.1:c.228C>T	ENSP00000495488.1:p.Asp76=
ENST00000646985.1:c.282C>T	ENSP00000495053.1:p.Asp94=
ENST00000651418.1:c.312C>T	ENSP00000499150.1:p.Asp104=
ENST00000306058.9:c.297C>T	ENSP00000305119.5:p.Asp99=
ENST00000375687.8:c.312C>T	ENSP00000364839.4:p.Asp104=
ENST00000470145.2:n.255C>T
ENST00000613218.4:c.312C>T	ENSP00000480487.1:p.Asp104=
ENST00000620121.4:c.312C>T	ENSP00000481978.1:p.Asp104=
NM_015338.5:c.312C>T , LRG_630t1:c.312C>T	NP_056153.2:p.Asp104=
XM_006723727.2:c.309C>T	XP_006723790.1:p.Asp103=
XM_006723728.2:c.282C>T	XP_006723791.1:p.Asp94=
XM_006723730.2:c.228C>T	XP_006723793.1:p.Asp76=
XM_006723732.2:c.282C>T	XP_006723795.1:p.Asp94=
XM_011528647.1:c.576C>T	XP_011526949.1:p.Asp192=
XM_011528648.1:c.573C>T	XP_011526950.1:p.Asp191=
XM_011528649.1:c.492C>T	XP_011526951.1:p.Asp164=
XM_011528650.1:c.576C>T	XP_011526952.1:p.Asp192=
XM_011528651.1:c.291C>T	XP_011526953.1:p.Asp97=
XM_011528652.1:c.228C>T	XP_011526954.1:p.Asp76=
NM_001363734.1:c.282C>T	NP_001350663.1:p.Asp94=
XM_006723727.3:c.309C>T	XP_006723790.1:p.Asp103=
XM_006723728.3:c.282C>T	XP_006723791.1:p.Asp94=
XM_006723730.4:c.228C>T	XP_006723793.1:p.Asp76=
XM_011528648.3:c.573C>T	XP_011526950.1:p.Asp191=
XM_011528652.2:c.228C>T	XP_011526954.1:p.Asp76=
XM_017027704.1:c.228C>T	XP_016883193.1:p.Asp76=
XM_017027705.1:c.228C>T	XP_016883194.1:p.Asp76=
XM_017027706.1:c.312C>T	XP_016883195.1:p.Asp104=
NM_015338.6:c.312C>T MANE Select	NP_056153.2:p.Asp104=