Canonical Allele Identifier: CA408555374

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32432945C>T , CM000682.2:g.32432945C>T	GRCh38
NC_000020.10:g.31020748C>T , CM000682.1:g.31020748C>T	GRCh37
NC_000020.9:g.30484409C>T	NCBI36
NG_027868.1:g.79602C>T , LRG_630:g.79602C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015338.6:c.1045C>T MANE Select	NP_056153.2:p.Gln349Ter
ENST00000375687.10:c.1045C>T MANE Select	ENSP00000364839.4:p.Gln349Ter
NM_001363734.1:c.862C>T	NP_001350663.1:p.Gln288Ter
NM_015338.5:c.1045C>T , LRG_630t1:c.1045C>T	NP_056153.2:p.Gln349Ter
ENST00000306058.9:c.1030C>T	ENSP00000305119.5:p.Gln344Ter
ENST00000375687.8:c.1045C>T	ENSP00000364839.4:p.Gln349Ter
ENST00000553345.5:n.642C>T
ENST00000555564.1:n.631C>T
ENST00000613218.4:c.1045C>T	ENSP00000480487.1:p.Gln349Ter
ENST00000620121.4:c.1045C>T	ENSP00000481978.1:p.Gln349Ter
ENST00000644168.1:n.587C>T
ENST00000646985.1:c.862C>T	ENSP00000495053.1:p.Gln288Ter
ENST00000647223.1:n.2884C>T
ENST00000651418.1:c.1045C>T	ENSP00000499150.1:p.Gln349Ter
XM_006723727.2:c.1042C>T	XP_006723790.1:p.Gln348Ter
XM_006723727.3:c.1042C>T	XP_006723790.1:p.Gln348Ter
XM_006723728.2:c.1015C>T	XP_006723791.1:p.Gln339Ter
XM_006723728.3:c.1015C>T	XP_006723791.1:p.Gln339Ter
XM_006723730.2:c.961C>T	XP_006723793.1:p.Gln321Ter
XM_006723730.4:c.961C>T	XP_006723793.1:p.Gln321Ter
XM_006723732.2:c.862C>T	XP_006723795.1:p.Gln288Ter
XM_006723733.1:c.361C>T	XP_006723796.1:p.Gln121Ter
XM_011528647.1:c.1309C>T	XP_011526949.1:p.Gln437Ter
XM_011528648.1:c.1306C>T	XP_011526950.1:p.Gln436Ter
XM_011528648.3:c.1306C>T	XP_011526950.1:p.Gln436Ter
XM_011528649.1:c.1225C>T	XP_011526951.1:p.Gln409Ter
XM_011528650.1:c.1156C>T	XP_011526952.1:p.Gln386Ter
XM_011528651.1:c.1024C>T	XP_011526953.1:p.Gln342Ter
XM_011528652.1:c.961C>T	XP_011526954.1:p.Gln321Ter
XM_011528652.2:c.961C>T	XP_011526954.1:p.Gln321Ter
XM_017027704.1:c.961C>T	XP_016883193.1:p.Gln321Ter
XM_017027705.1:c.961C>T	XP_016883194.1:p.Gln321Ter
XM_017027706.1:c.892C>T	XP_016883195.1:p.Gln298Ter