Canonical Allele Identifier: CA408563243

Gene: ASXL1

Linked Data

• dbSNP Id: rs1569336680
• MyVariant Identifiers: chr20:g.31024038G>A (hg19) ; chr20:g.32436235G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436235G>A , CM000682.2:g.32436235G>A	GRCh38
NC_000020.10:g.31024038G>A , CM000682.1:g.31024038G>A	GRCh37
NC_000020.9:g.30487699G>A	NCBI36
NG_027868.1:g.82892G>A , LRG_630:g.82892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3523G>A MANE Select	ENSP00000364839.4:p.Glu1175Lys
ENST00000646985.1:c.3340G>A	ENSP00000495053.1:p.Glu1114Lys
ENST00000647223.1:n.5876G>A
ENST00000651418.1:c.1869+1654G>A	ENSP00000499150.1:n.1869+1654G>A
ENST00000306058.9:c.3508G>A	ENSP00000305119.5:p.Glu1170Lys
ENST00000375687.8:c.3523G>A	ENSP00000364839.4:p.Glu1175Lys
ENST00000613218.4:c.3523G>A	ENSP00000480487.1:p.Glu1175Lys
ENST00000620121.4:c.3523G>A	ENSP00000481978.1:p.Glu1175Lys
NM_015338.5:c.3523G>A , LRG_630t1:c.3523G>A	NP_056153.2:p.Glu1175Lys
XM_006723727.2:c.3520G>A	XP_006723790.1:p.Glu1174Lys
XM_006723728.2:c.3493G>A	XP_006723791.1:p.Glu1165Lys
XM_006723730.2:c.3439G>A	XP_006723793.1:p.Glu1147Lys
XM_006723732.2:c.3340G>A	XP_006723795.1:p.Glu1114Lys
XM_006723733.1:c.2839G>A	XP_006723796.1:p.Glu947Lys
XM_011528647.1:c.3787G>A	XP_011526949.1:p.Glu1263Lys
XM_011528648.1:c.3784G>A	XP_011526950.1:p.Glu1262Lys
XM_011528649.1:c.3703G>A	XP_011526951.1:p.Glu1235Lys
XM_011528650.1:c.3634G>A	XP_011526952.1:p.Glu1212Lys
XM_011528651.1:c.3502G>A	XP_011526953.1:p.Glu1168Lys
XM_011528652.1:c.3439G>A	XP_011526954.1:p.Glu1147Lys
NM_001363734.1:c.3340G>A	NP_001350663.1:p.Glu1114Lys
XM_006723727.3:c.3520G>A	XP_006723790.1:p.Glu1174Lys
XM_006723728.3:c.3493G>A	XP_006723791.1:p.Glu1165Lys
XM_006723730.4:c.3439G>A	XP_006723793.1:p.Glu1147Lys
XM_011528648.3:c.3784G>A	XP_011526950.1:p.Glu1262Lys
XM_011528652.2:c.3439G>A	XP_011526954.1:p.Glu1147Lys
XM_017027704.1:c.3439G>A	XP_016883193.1:p.Glu1147Lys
XM_017027705.1:c.3439G>A	XP_016883194.1:p.Glu1147Lys
XM_017027706.1:c.3370G>A	XP_016883195.1:p.Glu1124Lys
NM_015338.6:c.3523G>A MANE Select	NP_056153.2:p.Glu1175Lys