Canonical Allele Identifier: CA2360293792

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436624T= , CM000682.2:g.32436624T=	GRCh38
NC_000020.10:g.31024427T= , CM000682.1:g.31024427T=	GRCh37
NC_000020.9:g.30488088T=	NCBI36
NG_027868.1:g.83281T= , LRG_630:g.83281T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3912T= MANE Select	ENSP00000364839.4:p.Leu1304=
ENST00000646985.1:c.3729T=	ENSP00000495053.1:p.Leu1243=
ENST00000647223.1:n.6265T=
ENST00000651418.1:c.1870-1806T=	ENSP00000499150.1:n.1870-1806T=
ENST00000306058.9:c.3897T=	ENSP00000305119.5:p.Leu1299=
ENST00000375687.8:c.3912T=	ENSP00000364839.4:p.Leu1304=
ENST00000613218.4:c.3912T=	ENSP00000480487.1:p.Leu1304=
ENST00000620121.4:c.3912T=	ENSP00000481978.1:p.Leu1304=
NM_015338.5:c.3912T= , LRG_630t1:c.3912T=	NP_056153.2:p.Leu1304=
XM_006723727.2:c.3909T=	XP_006723790.1:p.Leu1303=
XM_006723728.2:c.3882T=	XP_006723791.1:p.Leu1294=
XM_006723730.2:c.3828T=	XP_006723793.1:p.Leu1276=
XM_006723732.2:c.3729T=	XP_006723795.1:p.Leu1243=
XM_006723733.1:c.3228T=	XP_006723796.1:p.Leu1076=
XM_011528647.1:c.4176T=	XP_011526949.1:p.Leu1392=
XM_011528648.1:c.4173T=	XP_011526950.1:p.Leu1391=
XM_011528649.1:c.4092T=	XP_011526951.1:p.Leu1364=
XM_011528650.1:c.4023T=	XP_011526952.1:p.Leu1341=
XM_011528651.1:c.3891T=	XP_011526953.1:p.Leu1297=
XM_011528652.1:c.3828T=	XP_011526954.1:p.Leu1276=
NM_001363734.1:c.3729T=	NP_001350663.1:p.Leu1243=
XM_006723727.3:c.3909T=	XP_006723790.1:p.Leu1303=
XM_006723728.3:c.3882T=	XP_006723791.1:p.Leu1294=
XM_006723730.4:c.3828T=	XP_006723793.1:p.Leu1276=
XM_011528648.3:c.4173T=	XP_011526950.1:p.Leu1391=
XM_011528652.2:c.3828T=	XP_011526954.1:p.Leu1276=
XM_017027704.1:c.3828T=	XP_016883193.1:p.Leu1276=
XM_017027705.1:c.3828T=	XP_016883194.1:p.Leu1276=
XM_017027706.1:c.3759T=	XP_016883195.1:p.Leu1253=
NM_015338.6:c.3912T= MANE Select	NP_056153.2:p.Leu1304=