Canonical Allele Identifier: CA408553402

Gene: ASXL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32431335A>C , CM000682.2:g.32431335A>C	GRCh38
NC_000020.10:g.31019138A>C , CM000682.1:g.31019138A>C	GRCh37
NC_000020.9:g.30482799A>C	NCBI36
NG_027868.1:g.77992A>C , LRG_630:g.77992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.733A>C MANE Select	ENSP00000364839.4:p.Asn245His
ENST00000555564.2:n.187A>C
ENST00000646985.1:c.550A>C	ENSP00000495053.1:p.Asn184His
ENST00000647223.1:n.2572A>C
ENST00000651418.1:c.733A>C	ENSP00000499150.1:p.Asn245His
ENST00000306058.9:c.718A>C	ENSP00000305119.5:p.Asn240His
ENST00000375687.8:c.733A>C	ENSP00000364839.4:p.Asn245His
ENST00000553345.5:n.330A>C
ENST00000555564.1:n.319A>C
ENST00000613218.4:c.733A>C	ENSP00000480487.1:p.Asn245His
ENST00000619344.4:n.329A>C
ENST00000620121.4:c.733A>C	ENSP00000481978.1:p.Asn245His
NM_015338.5:c.733A>C , LRG_630t1:c.733A>C	NP_056153.2:p.Asn245His
XM_006723727.2:c.730A>C	XP_006723790.1:p.Asn244His
XM_006723728.2:c.703A>C	XP_006723791.1:p.Asn235His
XM_006723730.2:c.649A>C	XP_006723793.1:p.Asn217His
XM_006723732.2:c.550A>C	XP_006723795.1:p.Asn184His
XM_006723733.1:c.49A>C	XP_006723796.1:p.Asn17His
XM_011528647.1:c.997A>C	XP_011526949.1:p.Asn333His
XM_011528648.1:c.994A>C	XP_011526950.1:p.Asn332His
XM_011528649.1:c.913A>C	XP_011526951.1:p.Asn305His
XM_011528650.1:c.844A>C	XP_011526952.1:p.Asn282His
XM_011528651.1:c.712A>C	XP_011526953.1:p.Asn238His
XM_011528652.1:c.649A>C	XP_011526954.1:p.Asn217His
NM_001363734.1:c.550A>C	NP_001350663.1:p.Asn184His
XM_006723727.3:c.730A>C	XP_006723790.1:p.Asn244His
XM_006723728.3:c.703A>C	XP_006723791.1:p.Asn235His
XM_006723730.4:c.649A>C	XP_006723793.1:p.Asn217His
XM_011528648.3:c.994A>C	XP_011526950.1:p.Asn332His
XM_011528652.2:c.649A>C	XP_011526954.1:p.Asn217His
XM_017027704.1:c.649A>C	XP_016883193.1:p.Asn217His
XM_017027705.1:c.649A>C	XP_016883194.1:p.Asn217His
XM_017027706.1:c.580A>C	XP_016883195.1:p.Asn194His
NM_015338.6:c.733A>C MANE Select	NP_056153.2:p.Asn245His