Canonical Allele Identifier: CA9808335

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433529C>T , CM000682.2:g.32433529C>T	GRCh38
NC_000020.10:g.31021332C>T , CM000682.1:g.31021332C>T	GRCh37
NC_000020.9:g.30484993C>T	NCBI36
NG_027868.1:g.80186C>T , LRG_630:g.80186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1331C>T MANE Select	ENSP00000364839.4:p.Ser444Leu
ENST00000644168.1:n.873C>T
ENST00000646985.1:c.1148C>T	ENSP00000495053.1:p.Ser383Leu
ENST00000647223.1:n.3170C>T
ENST00000651418.1:c.1331C>T	ENSP00000499150.1:p.Ser444Leu
ENST00000306058.9:c.1316C>T	ENSP00000305119.5:p.Ser439Leu
ENST00000375687.8:c.1331C>T	ENSP00000364839.4:p.Ser444Leu
ENST00000613218.4:c.1331C>T	ENSP00000480487.1:p.Ser444Leu
ENST00000620121.4:c.1331C>T	ENSP00000481978.1:p.Ser444Leu
NM_015338.5:c.1331C>T , LRG_630t1:c.1331C>T	NP_056153.2:p.Ser444Leu
XM_006723727.2:c.1328C>T	XP_006723790.1:p.Ser443Leu
XM_006723728.2:c.1301C>T	XP_006723791.1:p.Ser434Leu
XM_006723730.2:c.1247C>T	XP_006723793.1:p.Ser416Leu
XM_006723732.2:c.1148C>T	XP_006723795.1:p.Ser383Leu
XM_006723733.1:c.647C>T	XP_006723796.1:p.Ser216Leu
XM_011528647.1:c.1595C>T	XP_011526949.1:p.Ser532Leu
XM_011528648.1:c.1592C>T	XP_011526950.1:p.Ser531Leu
XM_011528649.1:c.1511C>T	XP_011526951.1:p.Ser504Leu
XM_011528650.1:c.1442C>T	XP_011526952.1:p.Ser481Leu
XM_011528651.1:c.1310C>T	XP_011526953.1:p.Ser437Leu
XM_011528652.1:c.1247C>T	XP_011526954.1:p.Ser416Leu
NM_001363734.1:c.1148C>T	NP_001350663.1:p.Ser383Leu
XM_006723727.3:c.1328C>T	XP_006723790.1:p.Ser443Leu
XM_006723728.3:c.1301C>T	XP_006723791.1:p.Ser434Leu
XM_006723730.4:c.1247C>T	XP_006723793.1:p.Ser416Leu
XM_011528648.3:c.1592C>T	XP_011526950.1:p.Ser531Leu
XM_011528652.2:c.1247C>T	XP_011526954.1:p.Ser416Leu
XM_017027704.1:c.1247C>T	XP_016883193.1:p.Ser416Leu
XM_017027705.1:c.1247C>T	XP_016883194.1:p.Ser416Leu
XM_017027706.1:c.1178C>T	XP_016883195.1:p.Ser393Leu
NM_015338.6:c.1331C>T MANE Select	NP_056153.2:p.Ser444Leu