Canonical Allele Identifier: CA2360293844

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436745A= , CM000682.2:g.32436745A=	GRCh38
NC_000020.10:g.31024548A= , CM000682.1:g.31024548A=	GRCh37
NC_000020.9:g.30488209A=	NCBI36
NG_027868.1:g.83402A= , LRG_630:g.83402A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4033A= MANE Select	ENSP00000364839.4:p.Met1345=
ENST00000646985.1:c.3850A=	ENSP00000495053.1:p.Met1284=
ENST00000647223.1:n.6386A=
ENST00000651418.1:c.1870-1685A=	ENSP00000499150.1:n.1870-1685A=
ENST00000306058.9:c.4018A=	ENSP00000305119.5:p.Met1340=
ENST00000375687.8:c.4033A=	ENSP00000364839.4:p.Met1345=
ENST00000613218.4:c.4033A=	ENSP00000480487.1:p.Met1345=
ENST00000620121.4:c.4033A=	ENSP00000481978.1:p.Met1345=
NM_015338.5:c.4033A= , LRG_630t1:c.4033A=	NP_056153.2:p.Met1345=
XM_006723727.2:c.4030A=	XP_006723790.1:p.Met1344=
XM_006723728.2:c.4003A=	XP_006723791.1:p.Met1335=
XM_006723730.2:c.3949A=	XP_006723793.1:p.Met1317=
XM_006723732.2:c.3850A=	XP_006723795.1:p.Met1284=
XM_006723733.1:c.3349A=	XP_006723796.1:p.Met1117=
XM_011528647.1:c.4297A=	XP_011526949.1:p.Met1433=
XM_011528648.1:c.4294A=	XP_011526950.1:p.Met1432=
XM_011528649.1:c.4213A=	XP_011526951.1:p.Met1405=
XM_011528650.1:c.4144A=	XP_011526952.1:p.Met1382=
XM_011528651.1:c.4012A=	XP_011526953.1:p.Met1338=
XM_011528652.1:c.3949A=	XP_011526954.1:p.Met1317=
NM_001363734.1:c.3850A=	NP_001350663.1:p.Met1284=
XM_006723727.3:c.4030A=	XP_006723790.1:p.Met1344=
XM_006723728.3:c.4003A=	XP_006723791.1:p.Met1335=
XM_006723730.4:c.3949A=	XP_006723793.1:p.Met1317=
XM_011528648.3:c.4294A=	XP_011526950.1:p.Met1432=
XM_011528652.2:c.3949A=	XP_011526954.1:p.Met1317=
XM_017027704.1:c.3949A=	XP_016883193.1:p.Met1317=
XM_017027705.1:c.3949A=	XP_016883194.1:p.Met1317=
XM_017027706.1:c.3880A=	XP_016883195.1:p.Met1294=
NM_015338.6:c.4033A= MANE Select	NP_056153.2:p.Met1345=