Canonical Allele Identifier: CA408564078

Gene: ASXL1

Linked Data

• dbSNP Id: rs1294298793
• MyVariant Identifiers: chr20:g.31024438G>T (hg19) ; chr20:g.32436635G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436635G>T , CM000682.2:g.32436635G>T	GRCh38
NC_000020.10:g.31024438G>T , CM000682.1:g.31024438G>T	GRCh37
NC_000020.9:g.30488099G>T	NCBI36
NG_027868.1:g.83292G>T , LRG_630:g.83292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3923G>T MANE Select	ENSP00000364839.4:p.Gly1308Val
ENST00000646985.1:c.3740G>T	ENSP00000495053.1:p.Gly1247Val
ENST00000647223.1:n.6276G>T
ENST00000651418.1:c.1870-1795G>T	ENSP00000499150.1:n.1870-1795G>T
ENST00000306058.9:c.3908G>T	ENSP00000305119.5:p.Gly1303Val
ENST00000375687.8:c.3923G>T	ENSP00000364839.4:p.Gly1308Val
ENST00000613218.4:c.3923G>T	ENSP00000480487.1:p.Gly1308Val
ENST00000620121.4:c.3923G>T	ENSP00000481978.1:p.Gly1308Val
NM_015338.5:c.3923G>T , LRG_630t1:c.3923G>T	NP_056153.2:p.Gly1308Val
XM_006723727.2:c.3920G>T	XP_006723790.1:p.Gly1307Val
XM_006723728.2:c.3893G>T	XP_006723791.1:p.Gly1298Val
XM_006723730.2:c.3839G>T	XP_006723793.1:p.Gly1280Val
XM_006723732.2:c.3740G>T	XP_006723795.1:p.Gly1247Val
XM_006723733.1:c.3239G>T	XP_006723796.1:p.Gly1080Val
XM_011528647.1:c.4187G>T	XP_011526949.1:p.Gly1396Val
XM_011528648.1:c.4184G>T	XP_011526950.1:p.Gly1395Val
XM_011528649.1:c.4103G>T	XP_011526951.1:p.Gly1368Val
XM_011528650.1:c.4034G>T	XP_011526952.1:p.Gly1345Val
XM_011528651.1:c.3902G>T	XP_011526953.1:p.Gly1301Val
XM_011528652.1:c.3839G>T	XP_011526954.1:p.Gly1280Val
NM_001363734.1:c.3740G>T	NP_001350663.1:p.Gly1247Val
XM_006723727.3:c.3920G>T	XP_006723790.1:p.Gly1307Val
XM_006723728.3:c.3893G>T	XP_006723791.1:p.Gly1298Val
XM_006723730.4:c.3839G>T	XP_006723793.1:p.Gly1280Val
XM_011528648.3:c.4184G>T	XP_011526950.1:p.Gly1395Val
XM_011528652.2:c.3839G>T	XP_011526954.1:p.Gly1280Val
XM_017027704.1:c.3839G>T	XP_016883193.1:p.Gly1280Val
XM_017027705.1:c.3839G>T	XP_016883194.1:p.Gly1280Val
XM_017027706.1:c.3770G>T	XP_016883195.1:p.Gly1257Val
NM_015338.6:c.3923G>T MANE Select	NP_056153.2:p.Gly1308Val