Canonical Allele Identifier: CA408561727

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023483G>T (hg19) ; chr20:g.32435680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435680G>T , CM000682.2:g.32435680G>T	GRCh38
NC_000020.10:g.31023483G>T , CM000682.1:g.31023483G>T	GRCh37
NC_000020.9:g.30487144G>T	NCBI36
NG_027868.1:g.82337G>T , LRG_630:g.82337G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.2968G>T MANE Select	ENSP00000364839.4:p.Glu990Ter
ENST00000646985.1:c.2785G>T	ENSP00000495053.1:p.Glu929Ter
ENST00000647223.1:n.5321G>T
ENST00000651418.1:c.1869+1099G>T	ENSP00000499150.1:n.1869+1099G>T
ENST00000306058.9:c.2953G>T	ENSP00000305119.5:p.Glu985Ter
ENST00000375687.8:c.2968G>T	ENSP00000364839.4:p.Glu990Ter
ENST00000613218.4:c.2968G>T	ENSP00000480487.1:p.Glu990Ter
ENST00000620121.4:c.2968G>T	ENSP00000481978.1:p.Glu990Ter
NM_015338.5:c.2968G>T , LRG_630t1:c.2968G>T	NP_056153.2:p.Glu990Ter
XM_006723727.2:c.2965G>T	XP_006723790.1:p.Glu989Ter
XM_006723728.2:c.2938G>T	XP_006723791.1:p.Glu980Ter
XM_006723730.2:c.2884G>T	XP_006723793.1:p.Glu962Ter
XM_006723732.2:c.2785G>T	XP_006723795.1:p.Glu929Ter
XM_006723733.1:c.2284G>T	XP_006723796.1:p.Glu762Ter
XM_011528647.1:c.3232G>T	XP_011526949.1:p.Glu1078Ter
XM_011528648.1:c.3229G>T	XP_011526950.1:p.Glu1077Ter
XM_011528649.1:c.3148G>T	XP_011526951.1:p.Glu1050Ter
XM_011528650.1:c.3079G>T	XP_011526952.1:p.Glu1027Ter
XM_011528651.1:c.2947G>T	XP_011526953.1:p.Glu983Ter
XM_011528652.1:c.2884G>T	XP_011526954.1:p.Glu962Ter
NM_001363734.1:c.2785G>T	NP_001350663.1:p.Glu929Ter
XM_006723727.3:c.2965G>T	XP_006723790.1:p.Glu989Ter
XM_006723728.3:c.2938G>T	XP_006723791.1:p.Glu980Ter
XM_006723730.4:c.2884G>T	XP_006723793.1:p.Glu962Ter
XM_011528648.3:c.3229G>T	XP_011526950.1:p.Glu1077Ter
XM_011528652.2:c.2884G>T	XP_011526954.1:p.Glu962Ter
XM_017027704.1:c.2884G>T	XP_016883193.1:p.Glu962Ter
XM_017027705.1:c.2884G>T	XP_016883194.1:p.Glu962Ter
XM_017027706.1:c.2815G>T	XP_016883195.1:p.Glu939Ter
NM_015338.6:c.2968G>T MANE Select	NP_056153.2:p.Glu990Ter