Canonical Allele Identifier: CA9808770

Gene: ASXL1

Linked Data

• dbSNP Id: rs760343023
• ExAC: 20:31023687 G / A
• gnomAD v2: 20-31023687-G-A
• gnomAD v4: 20-32435884-G-A
• MyVariant Identifiers: chr20:g.31023687G>A (hg19) ; chr20:g.32435884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435884G>A , CM000682.2:g.32435884G>A	GRCh38
NC_000020.10:g.31023687G>A , CM000682.1:g.31023687G>A	GRCh37
NC_000020.9:g.30487348G>A	NCBI36
NG_027868.1:g.82541G>A , LRG_630:g.82541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3172G>A MANE Select	ENSP00000364839.4:p.Gly1058Arg
ENST00000646985.1:c.2989G>A	ENSP00000495053.1:p.Gly997Arg
ENST00000647223.1:n.5525G>A
ENST00000651418.1:c.1869+1303G>A	ENSP00000499150.1:n.1869+1303G>A
ENST00000306058.9:c.3157G>A	ENSP00000305119.5:p.Gly1053Arg
ENST00000375687.8:c.3172G>A	ENSP00000364839.4:p.Gly1058Arg
ENST00000613218.4:c.3172G>A	ENSP00000480487.1:p.Gly1058Arg
ENST00000620121.4:c.3172G>A	ENSP00000481978.1:p.Gly1058Arg
NM_015338.5:c.3172G>A , LRG_630t1:c.3172G>A	NP_056153.2:p.Gly1058Arg
XM_006723727.2:c.3169G>A	XP_006723790.1:p.Gly1057Arg
XM_006723728.2:c.3142G>A	XP_006723791.1:p.Gly1048Arg
XM_006723730.2:c.3088G>A	XP_006723793.1:p.Gly1030Arg
XM_006723732.2:c.2989G>A	XP_006723795.1:p.Gly997Arg
XM_006723733.1:c.2488G>A	XP_006723796.1:p.Gly830Arg
XM_011528647.1:c.3436G>A	XP_011526949.1:p.Gly1146Arg
XM_011528648.1:c.3433G>A	XP_011526950.1:p.Gly1145Arg
XM_011528649.1:c.3352G>A	XP_011526951.1:p.Gly1118Arg
XM_011528650.1:c.3283G>A	XP_011526952.1:p.Gly1095Arg
XM_011528651.1:c.3151G>A	XP_011526953.1:p.Gly1051Arg
XM_011528652.1:c.3088G>A	XP_011526954.1:p.Gly1030Arg
NM_001363734.1:c.2989G>A	NP_001350663.1:p.Gly997Arg
XM_006723727.3:c.3169G>A	XP_006723790.1:p.Gly1057Arg
XM_006723728.3:c.3142G>A	XP_006723791.1:p.Gly1048Arg
XM_006723730.4:c.3088G>A	XP_006723793.1:p.Gly1030Arg
XM_011528648.3:c.3433G>A	XP_011526950.1:p.Gly1145Arg
XM_011528652.2:c.3088G>A	XP_011526954.1:p.Gly1030Arg
XM_017027704.1:c.3088G>A	XP_016883193.1:p.Gly1030Arg
XM_017027705.1:c.3088G>A	XP_016883194.1:p.Gly1030Arg
XM_017027706.1:c.3019G>A	XP_016883195.1:p.Gly1007Arg
NM_015338.6:c.3172G>A MANE Select	NP_056153.2:p.Gly1058Arg