Canonical Allele Identifier: CA408564113

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024456T>A (hg19) ; chr20:g.32436653T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436653T>A , CM000682.2:g.32436653T>A	GRCh38
NC_000020.10:g.31024456T>A , CM000682.1:g.31024456T>A	GRCh37
NC_000020.9:g.30488117T>A	NCBI36
NG_027868.1:g.83310T>A , LRG_630:g.83310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3941T>A MANE Select	ENSP00000364839.4:p.Leu1314His
ENST00000646985.1:c.3758T>A	ENSP00000495053.1:p.Leu1253His
ENST00000647223.1:n.6294T>A
ENST00000651418.1:c.1870-1777T>A	ENSP00000499150.1:n.1870-1777T>A
ENST00000306058.9:c.3926T>A	ENSP00000305119.5:p.Leu1309His
ENST00000375687.8:c.3941T>A	ENSP00000364839.4:p.Leu1314His
ENST00000613218.4:c.3941T>A	ENSP00000480487.1:p.Leu1314His
ENST00000620121.4:c.3941T>A	ENSP00000481978.1:p.Leu1314His
NM_015338.5:c.3941T>A , LRG_630t1:c.3941T>A	NP_056153.2:p.Leu1314His
XM_006723727.2:c.3938T>A	XP_006723790.1:p.Leu1313His
XM_006723728.2:c.3911T>A	XP_006723791.1:p.Leu1304His
XM_006723730.2:c.3857T>A	XP_006723793.1:p.Leu1286His
XM_006723732.2:c.3758T>A	XP_006723795.1:p.Leu1253His
XM_006723733.1:c.3257T>A	XP_006723796.1:p.Leu1086His
XM_011528647.1:c.4205T>A	XP_011526949.1:p.Leu1402His
XM_011528648.1:c.4202T>A	XP_011526950.1:p.Leu1401His
XM_011528649.1:c.4121T>A	XP_011526951.1:p.Leu1374His
XM_011528650.1:c.4052T>A	XP_011526952.1:p.Leu1351His
XM_011528651.1:c.3920T>A	XP_011526953.1:p.Leu1307His
XM_011528652.1:c.3857T>A	XP_011526954.1:p.Leu1286His
NM_001363734.1:c.3758T>A	NP_001350663.1:p.Leu1253His
XM_006723727.3:c.3938T>A	XP_006723790.1:p.Leu1313His
XM_006723728.3:c.3911T>A	XP_006723791.1:p.Leu1304His
XM_006723730.4:c.3857T>A	XP_006723793.1:p.Leu1286His
XM_011528648.3:c.4202T>A	XP_011526950.1:p.Leu1401His
XM_011528652.2:c.3857T>A	XP_011526954.1:p.Leu1286His
XM_017027704.1:c.3857T>A	XP_016883193.1:p.Leu1286His
XM_017027705.1:c.3857T>A	XP_016883194.1:p.Leu1286His
XM_017027706.1:c.3788T>A	XP_016883195.1:p.Leu1263His
NM_015338.6:c.3941T>A MANE Select	NP_056153.2:p.Leu1314His