Canonical Allele Identifier: CA408564225

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024513T>G (hg19) ; chr20:g.32436710T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436710T>G , CM000682.2:g.32436710T>G	GRCh38
NC_000020.10:g.31024513T>G , CM000682.1:g.31024513T>G	GRCh37
NC_000020.9:g.30488174T>G	NCBI36
NG_027868.1:g.83367T>G , LRG_630:g.83367T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3998T>G MANE Select	ENSP00000364839.4:p.Phe1333Cys
ENST00000646985.1:c.3815T>G	ENSP00000495053.1:p.Phe1272Cys
ENST00000647223.1:n.6351T>G
ENST00000651418.1:c.1870-1720T>G	ENSP00000499150.1:n.1870-1720T>G
ENST00000306058.9:c.3983T>G	ENSP00000305119.5:p.Phe1328Cys
ENST00000375687.8:c.3998T>G	ENSP00000364839.4:p.Phe1333Cys
ENST00000613218.4:c.3998T>G	ENSP00000480487.1:p.Phe1333Cys
ENST00000620121.4:c.3998T>G	ENSP00000481978.1:p.Phe1333Cys
NM_015338.5:c.3998T>G , LRG_630t1:c.3998T>G	NP_056153.2:p.Phe1333Cys
XM_006723727.2:c.3995T>G	XP_006723790.1:p.Phe1332Cys
XM_006723728.2:c.3968T>G	XP_006723791.1:p.Phe1323Cys
XM_006723730.2:c.3914T>G	XP_006723793.1:p.Phe1305Cys
XM_006723732.2:c.3815T>G	XP_006723795.1:p.Phe1272Cys
XM_006723733.1:c.3314T>G	XP_006723796.1:p.Phe1105Cys
XM_011528647.1:c.4262T>G	XP_011526949.1:p.Phe1421Cys
XM_011528648.1:c.4259T>G	XP_011526950.1:p.Phe1420Cys
XM_011528649.1:c.4178T>G	XP_011526951.1:p.Phe1393Cys
XM_011528650.1:c.4109T>G	XP_011526952.1:p.Phe1370Cys
XM_011528651.1:c.3977T>G	XP_011526953.1:p.Phe1326Cys
XM_011528652.1:c.3914T>G	XP_011526954.1:p.Phe1305Cys
NM_001363734.1:c.3815T>G	NP_001350663.1:p.Phe1272Cys
XM_006723727.3:c.3995T>G	XP_006723790.1:p.Phe1332Cys
XM_006723728.3:c.3968T>G	XP_006723791.1:p.Phe1323Cys
XM_006723730.4:c.3914T>G	XP_006723793.1:p.Phe1305Cys
XM_011528648.3:c.4259T>G	XP_011526950.1:p.Phe1420Cys
XM_011528652.2:c.3914T>G	XP_011526954.1:p.Phe1305Cys
XM_017027704.1:c.3914T>G	XP_016883193.1:p.Phe1305Cys
XM_017027705.1:c.3914T>G	XP_016883194.1:p.Phe1305Cys
XM_017027706.1:c.3845T>G	XP_016883195.1:p.Phe1282Cys
NM_015338.6:c.3998T>G MANE Select	NP_056153.2:p.Phe1333Cys