Canonical Allele Identifier: CA408561726

Gene: ASXL1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.2968G>C MANE Select	ENSP00000364839.4:p.Glu990Gln
ENST00000646985.1:c.2785G>C	ENSP00000495053.1:p.Glu929Gln
ENST00000647223.1:n.5321G>C
ENST00000651418.1:c.1869+1099G>C	ENSP00000499150.1:n.1869+1099G>C
ENST00000306058.9:c.2953G>C	ENSP00000305119.5:p.Glu985Gln
ENST00000375687.8:c.2968G>C	ENSP00000364839.4:p.Glu990Gln
ENST00000613218.4:c.2968G>C	ENSP00000480487.1:p.Glu990Gln
ENST00000620121.4:c.2968G>C	ENSP00000481978.1:p.Glu990Gln
NM_015338.5:c.2968G>C , LRG_630t1:c.2968G>C	NP_056153.2:p.Glu990Gln
XM_006723727.2:c.2965G>C	XP_006723790.1:p.Glu989Gln
XM_006723728.2:c.2938G>C	XP_006723791.1:p.Glu980Gln
XM_006723730.2:c.2884G>C	XP_006723793.1:p.Glu962Gln
XM_006723732.2:c.2785G>C	XP_006723795.1:p.Glu929Gln
XM_006723733.1:c.2284G>C	XP_006723796.1:p.Glu762Gln
XM_011528647.1:c.3232G>C	XP_011526949.1:p.Glu1078Gln
XM_011528648.1:c.3229G>C	XP_011526950.1:p.Glu1077Gln
XM_011528649.1:c.3148G>C	XP_011526951.1:p.Glu1050Gln
XM_011528650.1:c.3079G>C	XP_011526952.1:p.Glu1027Gln
XM_011528651.1:c.2947G>C	XP_011526953.1:p.Glu983Gln
XM_011528652.1:c.2884G>C	XP_011526954.1:p.Glu962Gln
NM_001363734.1:c.2785G>C	NP_001350663.1:p.Glu929Gln
XM_006723727.3:c.2965G>C	XP_006723790.1:p.Glu989Gln
XM_006723728.3:c.2938G>C	XP_006723791.1:p.Glu980Gln
XM_006723730.4:c.2884G>C	XP_006723793.1:p.Glu962Gln
XM_011528648.3:c.3229G>C	XP_011526950.1:p.Glu1077Gln
XM_011528652.2:c.2884G>C	XP_011526954.1:p.Glu962Gln
XM_017027704.1:c.2884G>C	XP_016883193.1:p.Glu962Gln
XM_017027705.1:c.2884G>C	XP_016883194.1:p.Glu962Gln
XM_017027706.1:c.2815G>C	XP_016883195.1:p.Glu939Gln
NM_015338.6:c.2968G>C MANE Select	NP_056153.2:p.Glu990Gln