Canonical Allele Identifier: CA9808878

Gene: ASXL1

Linked Data

• dbSNP Id: rs752436984
• ExAC: 20:31024194 G / A
• gnomAD v2: 20-31024194-G-A
• gnomAD v4: 20-32436391-G-A
• MyVariant Identifiers: chr20:g.31024194G>A (hg19) ; chr20:g.32436391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436391G>A , CM000682.2:g.32436391G>A	GRCh38
NC_000020.10:g.31024194G>A , CM000682.1:g.31024194G>A	GRCh37
NC_000020.9:g.30487855G>A	NCBI36
NG_027868.1:g.83048G>A , LRG_630:g.83048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3679G>A MANE Select	ENSP00000364839.4:p.Glu1227Lys
ENST00000646985.1:c.3496G>A	ENSP00000495053.1:p.Glu1166Lys
ENST00000647223.1:n.6032G>A
ENST00000651418.1:c.1869+1810G>A	ENSP00000499150.1:n.1869+1810G>A
ENST00000306058.9:c.3664G>A	ENSP00000305119.5:p.Glu1222Lys
ENST00000375687.8:c.3679G>A	ENSP00000364839.4:p.Glu1227Lys
ENST00000613218.4:c.3679G>A	ENSP00000480487.1:p.Glu1227Lys
ENST00000620121.4:c.3679G>A	ENSP00000481978.1:p.Glu1227Lys
NM_015338.5:c.3679G>A , LRG_630t1:c.3679G>A	NP_056153.2:p.Glu1227Lys
XM_006723727.2:c.3676G>A	XP_006723790.1:p.Glu1226Lys
XM_006723728.2:c.3649G>A	XP_006723791.1:p.Glu1217Lys
XM_006723730.2:c.3595G>A	XP_006723793.1:p.Glu1199Lys
XM_006723732.2:c.3496G>A	XP_006723795.1:p.Glu1166Lys
XM_006723733.1:c.2995G>A	XP_006723796.1:p.Glu999Lys
XM_011528647.1:c.3943G>A	XP_011526949.1:p.Glu1315Lys
XM_011528648.1:c.3940G>A	XP_011526950.1:p.Glu1314Lys
XM_011528649.1:c.3859G>A	XP_011526951.1:p.Glu1287Lys
XM_011528650.1:c.3790G>A	XP_011526952.1:p.Glu1264Lys
XM_011528651.1:c.3658G>A	XP_011526953.1:p.Glu1220Lys
XM_011528652.1:c.3595G>A	XP_011526954.1:p.Glu1199Lys
NM_001363734.1:c.3496G>A	NP_001350663.1:p.Glu1166Lys
XM_006723727.3:c.3676G>A	XP_006723790.1:p.Glu1226Lys
XM_006723728.3:c.3649G>A	XP_006723791.1:p.Glu1217Lys
XM_006723730.4:c.3595G>A	XP_006723793.1:p.Glu1199Lys
XM_011528648.3:c.3940G>A	XP_011526950.1:p.Glu1314Lys
XM_011528652.2:c.3595G>A	XP_011526954.1:p.Glu1199Lys
XM_017027704.1:c.3595G>A	XP_016883193.1:p.Glu1199Lys
XM_017027705.1:c.3595G>A	XP_016883194.1:p.Glu1199Lys
XM_017027706.1:c.3526G>A	XP_016883195.1:p.Glu1176Lys
NM_015338.6:c.3679G>A MANE Select	NP_056153.2:p.Glu1227Lys