Canonical Allele Identifier: CA408564428

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145392059
• MyVariant Identifiers: chr20:g.31024609G>A (hg19) ; chr20:g.32436806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436806G>A , CM000682.2:g.32436806G>A	GRCh38
NC_000020.10:g.31024609G>A , CM000682.1:g.31024609G>A	GRCh37
NC_000020.9:g.30488270G>A	NCBI36
NG_027868.1:g.83463G>A , LRG_630:g.83463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4094G>A MANE Select	ENSP00000364839.4:p.Gly1365Asp
ENST00000646985.1:c.3911G>A	ENSP00000495053.1:p.Gly1304Asp
ENST00000647223.1:n.6447G>A
ENST00000651418.1:c.1870-1624G>A	ENSP00000499150.1:n.1870-1624G>A
ENST00000306058.9:c.4079G>A	ENSP00000305119.5:p.Gly1360Asp
ENST00000375687.8:c.4094G>A	ENSP00000364839.4:p.Gly1365Asp
ENST00000613218.4:c.4094G>A	ENSP00000480487.1:p.Gly1365Asp
ENST00000620121.4:c.4094G>A	ENSP00000481978.1:p.Gly1365Asp
NM_015338.5:c.4094G>A , LRG_630t1:c.4094G>A	NP_056153.2:p.Gly1365Asp
XM_006723727.2:c.4091G>A	XP_006723790.1:p.Gly1364Asp
XM_006723728.2:c.4064G>A	XP_006723791.1:p.Gly1355Asp
XM_006723730.2:c.4010G>A	XP_006723793.1:p.Gly1337Asp
XM_006723732.2:c.3911G>A	XP_006723795.1:p.Gly1304Asp
XM_006723733.1:c.3410G>A	XP_006723796.1:p.Gly1137Asp
XM_011528647.1:c.4358G>A	XP_011526949.1:p.Gly1453Asp
XM_011528648.1:c.4355G>A	XP_011526950.1:p.Gly1452Asp
XM_011528649.1:c.4274G>A	XP_011526951.1:p.Gly1425Asp
XM_011528650.1:c.4205G>A	XP_011526952.1:p.Gly1402Asp
XM_011528651.1:c.4073G>A	XP_011526953.1:p.Gly1358Asp
XM_011528652.1:c.4010G>A	XP_011526954.1:p.Gly1337Asp
NM_001363734.1:c.3911G>A	NP_001350663.1:p.Gly1304Asp
XM_006723727.3:c.4091G>A	XP_006723790.1:p.Gly1364Asp
XM_006723728.3:c.4064G>A	XP_006723791.1:p.Gly1355Asp
XM_006723730.4:c.4010G>A	XP_006723793.1:p.Gly1337Asp
XM_011528648.3:c.4355G>A	XP_011526950.1:p.Gly1452Asp
XM_011528652.2:c.4010G>A	XP_011526954.1:p.Gly1337Asp
XM_017027704.1:c.4010G>A	XP_016883193.1:p.Gly1337Asp
XM_017027705.1:c.4010G>A	XP_016883194.1:p.Gly1337Asp
XM_017027706.1:c.3941G>A	XP_016883195.1:p.Gly1314Asp
NM_015338.6:c.4094G>A MANE Select	NP_056153.2:p.Gly1365Asp