Canonical Allele Identifier: CA408563571

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024198A>C (hg19) ; chr20:g.32436395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436395A>C , CM000682.2:g.32436395A>C	GRCh38
NC_000020.10:g.31024198A>C , CM000682.1:g.31024198A>C	GRCh37
NC_000020.9:g.30487859A>C	NCBI36
NG_027868.1:g.83052A>C , LRG_630:g.83052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3683A>C MANE Select	ENSP00000364839.4:p.Glu1228Ala
ENST00000646985.1:c.3500A>C	ENSP00000495053.1:p.Glu1167Ala
ENST00000647223.1:n.6036A>C
ENST00000651418.1:c.1869+1814A>C	ENSP00000499150.1:n.1869+1814A>C
ENST00000306058.9:c.3668A>C	ENSP00000305119.5:p.Glu1223Ala
ENST00000375687.8:c.3683A>C	ENSP00000364839.4:p.Glu1228Ala
ENST00000613218.4:c.3683A>C	ENSP00000480487.1:p.Glu1228Ala
ENST00000620121.4:c.3683A>C	ENSP00000481978.1:p.Glu1228Ala
NM_015338.5:c.3683A>C , LRG_630t1:c.3683A>C	NP_056153.2:p.Glu1228Ala
XM_006723727.2:c.3680A>C	XP_006723790.1:p.Glu1227Ala
XM_006723728.2:c.3653A>C	XP_006723791.1:p.Glu1218Ala
XM_006723730.2:c.3599A>C	XP_006723793.1:p.Glu1200Ala
XM_006723732.2:c.3500A>C	XP_006723795.1:p.Glu1167Ala
XM_006723733.1:c.2999A>C	XP_006723796.1:p.Glu1000Ala
XM_011528647.1:c.3947A>C	XP_011526949.1:p.Glu1316Ala
XM_011528648.1:c.3944A>C	XP_011526950.1:p.Glu1315Ala
XM_011528649.1:c.3863A>C	XP_011526951.1:p.Glu1288Ala
XM_011528650.1:c.3794A>C	XP_011526952.1:p.Glu1265Ala
XM_011528651.1:c.3662A>C	XP_011526953.1:p.Glu1221Ala
XM_011528652.1:c.3599A>C	XP_011526954.1:p.Glu1200Ala
NM_001363734.1:c.3500A>C	NP_001350663.1:p.Glu1167Ala
XM_006723727.3:c.3680A>C	XP_006723790.1:p.Glu1227Ala
XM_006723728.3:c.3653A>C	XP_006723791.1:p.Glu1218Ala
XM_006723730.4:c.3599A>C	XP_006723793.1:p.Glu1200Ala
XM_011528648.3:c.3944A>C	XP_011526950.1:p.Glu1315Ala
XM_011528652.2:c.3599A>C	XP_011526954.1:p.Glu1200Ala
XM_017027704.1:c.3599A>C	XP_016883193.1:p.Glu1200Ala
XM_017027705.1:c.3599A>C	XP_016883194.1:p.Glu1200Ala
XM_017027706.1:c.3530A>C	XP_016883195.1:p.Glu1177Ala
NM_015338.6:c.3683A>C MANE Select	NP_056153.2:p.Glu1228Ala