Canonical Allele Identifier: CA157035

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435107G>T , CM000682.2:g.32435107G>T	GRCh38
NC_000020.10:g.31022910G>T , CM000682.1:g.31022910G>T	GRCh37
NC_000020.9:g.30486571G>T	NCBI36
NG_027868.1:g.81764G>T , LRG_630:g.81764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.2395G>T MANE Select	ENSP00000364839.4:p.Asp799Tyr
ENST00000646985.1:c.2212G>T	ENSP00000495053.1:p.Asp738Tyr
ENST00000647223.1:n.4748G>T
ENST00000651418.1:c.1869+526G>T	ENSP00000499150.1:n.1869+526G>T
ENST00000306058.9:c.2380G>T	ENSP00000305119.5:p.Asp794Tyr
ENST00000375687.8:c.2395G>T	ENSP00000364839.4:p.Asp799Tyr
ENST00000613218.4:c.2395G>T	ENSP00000480487.1:p.Asp799Tyr
ENST00000620121.4:c.2395G>T	ENSP00000481978.1:p.Asp799Tyr
NM_015338.5:c.2395G>T , LRG_630t1:c.2395G>T	NP_056153.2:p.Asp799Tyr
XM_006723727.2:c.2392G>T	XP_006723790.1:p.Asp798Tyr
XM_006723728.2:c.2365G>T	XP_006723791.1:p.Asp789Tyr
XM_006723730.2:c.2311G>T	XP_006723793.1:p.Asp771Tyr
XM_006723732.2:c.2212G>T	XP_006723795.1:p.Asp738Tyr
XM_006723733.1:c.1711G>T	XP_006723796.1:p.Asp571Tyr
XM_011528647.1:c.2659G>T	XP_011526949.1:p.Asp887Tyr
XM_011528648.1:c.2656G>T	XP_011526950.1:p.Asp886Tyr
XM_011528649.1:c.2575G>T	XP_011526951.1:p.Asp859Tyr
XM_011528650.1:c.2506G>T	XP_011526952.1:p.Asp836Tyr
XM_011528651.1:c.2374G>T	XP_011526953.1:p.Asp792Tyr
XM_011528652.1:c.2311G>T	XP_011526954.1:p.Asp771Tyr
NM_001363734.1:c.2212G>T	NP_001350663.1:p.Asp738Tyr
XM_006723727.3:c.2392G>T	XP_006723790.1:p.Asp798Tyr
XM_006723728.3:c.2365G>T	XP_006723791.1:p.Asp789Tyr
XM_006723730.4:c.2311G>T	XP_006723793.1:p.Asp771Tyr
XM_011528648.3:c.2656G>T	XP_011526950.1:p.Asp886Tyr
XM_011528652.2:c.2311G>T	XP_011526954.1:p.Asp771Tyr
XM_017027704.1:c.2311G>T	XP_016883193.1:p.Asp771Tyr
XM_017027705.1:c.2311G>T	XP_016883194.1:p.Asp771Tyr
XM_017027706.1:c.2242G>T	XP_016883195.1:p.Asp748Tyr
NM_015338.6:c.2395G>T MANE Select	NP_056153.2:p.Asp799Tyr