Canonical Allele Identifier: CA510201294

Gene: ASXL1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32433917G>A , CM000682.2:g.32433917G>A	GRCh38
NC_000020.10:g.31021720G>A , CM000682.1:g.31021720G>A	GRCh37
NC_000020.9:g.30485381G>A	NCBI36
NG_027868.1:g.80574G>A , LRG_630:g.80574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.1719G>A MANE Select	ENSP00000364839.4:p.Arg573=
ENST00000644168.1:n.1261G>A
ENST00000646985.1:c.1536G>A	ENSP00000495053.1:p.Arg512=
ENST00000647223.1:n.3558G>A
ENST00000651418.1:c.1719G>A	ENSP00000499150.1:p.Arg573=
ENST00000306058.9:c.1704G>A	ENSP00000305119.5:p.Arg568=
ENST00000375687.8:c.1719G>A	ENSP00000364839.4:p.Arg573=
ENST00000613218.4:c.1719G>A	ENSP00000480487.1:p.Arg573=
ENST00000620121.4:c.1719G>A	ENSP00000481978.1:p.Arg573=
NM_015338.5:c.1719G>A , LRG_630t1:c.1719G>A	NP_056153.2:p.Arg573=
XM_006723727.2:c.1716G>A	XP_006723790.1:p.Arg572=
XM_006723728.2:c.1689G>A	XP_006723791.1:p.Arg563=
XM_006723730.2:c.1635G>A	XP_006723793.1:p.Arg545=
XM_006723732.2:c.1536G>A	XP_006723795.1:p.Arg512=
XM_006723733.1:c.1035G>A	XP_006723796.1:p.Arg345=
XM_011528647.1:c.1983G>A	XP_011526949.1:p.Arg661=
XM_011528648.1:c.1980G>A	XP_011526950.1:p.Arg660=
XM_011528649.1:c.1899G>A	XP_011526951.1:p.Arg633=
XM_011528650.1:c.1830G>A	XP_011526952.1:p.Arg610=
XM_011528651.1:c.1698G>A	XP_011526953.1:p.Arg566=
XM_011528652.1:c.1635G>A	XP_011526954.1:p.Arg545=
NM_001363734.1:c.1536G>A	NP_001350663.1:p.Arg512=
XM_006723727.3:c.1716G>A	XP_006723790.1:p.Arg572=
XM_006723728.3:c.1689G>A	XP_006723791.1:p.Arg563=
XM_006723730.4:c.1635G>A	XP_006723793.1:p.Arg545=
XM_011528648.3:c.1980G>A	XP_011526950.1:p.Arg660=
XM_011528652.2:c.1635G>A	XP_011526954.1:p.Arg545=
XM_017027704.1:c.1635G>A	XP_016883193.1:p.Arg545=
XM_017027705.1:c.1635G>A	XP_016883194.1:p.Arg545=
XM_017027706.1:c.1566G>A	XP_016883195.1:p.Arg522=
NM_015338.6:c.1719G>A MANE Select	NP_056153.2:p.Arg573=