Canonical Allele Identifier: CA2360293521

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436076C= , CM000682.2:g.32436076C=	GRCh38
NC_000020.10:g.31023879C= , CM000682.1:g.31023879C=	GRCh37
NC_000020.9:g.30487540C=	NCBI36
NG_027868.1:g.82733C= , LRG_630:g.82733C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3364C= MANE Select	ENSP00000364839.4:p.Leu1122=
ENST00000646985.1:c.3181C=	ENSP00000495053.1:p.Leu1061=
ENST00000647223.1:n.5717C=
ENST00000651418.1:c.1869+1495C=	ENSP00000499150.1:n.1869+1495C=
ENST00000306058.9:c.3349C=	ENSP00000305119.5:p.Leu1117=
ENST00000375687.8:c.3364C=	ENSP00000364839.4:p.Leu1122=
ENST00000613218.4:c.3364C=	ENSP00000480487.1:p.Leu1122=
ENST00000620121.4:c.3364C=	ENSP00000481978.1:p.Leu1122=
NM_015338.5:c.3364C= , LRG_630t1:c.3364C=	NP_056153.2:p.Leu1122=
XM_006723727.2:c.3361C=	XP_006723790.1:p.Leu1121=
XM_006723728.2:c.3334C=	XP_006723791.1:p.Leu1112=
XM_006723730.2:c.3280C=	XP_006723793.1:p.Leu1094=
XM_006723732.2:c.3181C=	XP_006723795.1:p.Leu1061=
XM_006723733.1:c.2680C=	XP_006723796.1:p.Leu894=
XM_011528647.1:c.3628C=	XP_011526949.1:p.Leu1210=
XM_011528648.1:c.3625C=	XP_011526950.1:p.Leu1209=
XM_011528649.1:c.3544C=	XP_011526951.1:p.Leu1182=
XM_011528650.1:c.3475C=	XP_011526952.1:p.Leu1159=
XM_011528651.1:c.3343C=	XP_011526953.1:p.Leu1115=
XM_011528652.1:c.3280C=	XP_011526954.1:p.Leu1094=
NM_001363734.1:c.3181C=	NP_001350663.1:p.Leu1061=
XM_006723727.3:c.3361C=	XP_006723790.1:p.Leu1121=
XM_006723728.3:c.3334C=	XP_006723791.1:p.Leu1112=
XM_006723730.4:c.3280C=	XP_006723793.1:p.Leu1094=
XM_011528648.3:c.3625C=	XP_011526950.1:p.Leu1209=
XM_011528652.2:c.3280C=	XP_011526954.1:p.Leu1094=
XM_017027704.1:c.3280C=	XP_016883193.1:p.Leu1094=
XM_017027705.1:c.3280C=	XP_016883194.1:p.Leu1094=
XM_017027706.1:c.3211C=	XP_016883195.1:p.Leu1071=
NM_015338.6:c.3364C= MANE Select	NP_056153.2:p.Leu1122=