Canonical Allele Identifier: CA510466867

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023491G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435688G>T , CM000682.2:g.32435688G>T	GRCh38
NC_000020.10:g.31023491G>T , CM000682.1:g.31023491G>T	GRCh37
NC_000020.9:g.30487152G>T	NCBI36
NG_027868.1:g.82345G>T , LRG_630:g.82345G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.2976G>T MANE Select	ENSP00000364839.4:p.Leu992=
ENST00000646985.1:c.2793G>T	ENSP00000495053.1:p.Leu931=
ENST00000647223.1:n.5329G>T
ENST00000651418.1:c.1869+1107G>T	ENSP00000499150.1:n.1869+1107G>T
ENST00000306058.9:c.2961G>T	ENSP00000305119.5:p.Leu987=
ENST00000375687.8:c.2976G>T	ENSP00000364839.4:p.Leu992=
ENST00000613218.4:c.2976G>T	ENSP00000480487.1:p.Leu992=
ENST00000620121.4:c.2976G>T	ENSP00000481978.1:p.Leu992=
NM_015338.5:c.2976G>T , LRG_630t1:c.2976G>T	NP_056153.2:p.Leu992=
XM_006723727.2:c.2973G>T	XP_006723790.1:p.Leu991=
XM_006723728.2:c.2946G>T	XP_006723791.1:p.Leu982=
XM_006723730.2:c.2892G>T	XP_006723793.1:p.Leu964=
XM_006723732.2:c.2793G>T	XP_006723795.1:p.Leu931=
XM_006723733.1:c.2292G>T	XP_006723796.1:p.Leu764=
XM_011528647.1:c.3240G>T	XP_011526949.1:p.Leu1080=
XM_011528648.1:c.3237G>T	XP_011526950.1:p.Leu1079=
XM_011528649.1:c.3156G>T	XP_011526951.1:p.Leu1052=
XM_011528650.1:c.3087G>T	XP_011526952.1:p.Leu1029=
XM_011528651.1:c.2955G>T	XP_011526953.1:p.Leu985=
XM_011528652.1:c.2892G>T	XP_011526954.1:p.Leu964=
NM_001363734.1:c.2793G>T	NP_001350663.1:p.Leu931=
XM_006723727.3:c.2973G>T	XP_006723790.1:p.Leu991=
XM_006723728.3:c.2946G>T	XP_006723791.1:p.Leu982=
XM_006723730.4:c.2892G>T	XP_006723793.1:p.Leu964=
XM_011528648.3:c.3237G>T	XP_011526950.1:p.Leu1079=
XM_011528652.2:c.2892G>T	XP_011526954.1:p.Leu964=
XM_017027704.1:c.2892G>T	XP_016883193.1:p.Leu964=
XM_017027705.1:c.2892G>T	XP_016883194.1:p.Leu964=
XM_017027706.1:c.2823G>T	XP_016883195.1:p.Leu941=
NM_015338.6:c.2976G>T MANE Select	NP_056153.2:p.Leu992=