Canonical Allele Identifier: CA510467353

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145384419
• MyVariant Identifiers: chr20:g.31024115C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436312C>A , CM000682.2:g.32436312C>A	GRCh38
NC_000020.10:g.31024115C>A , CM000682.1:g.31024115C>A	GRCh37
NC_000020.9:g.30487776C>A	NCBI36
NG_027868.1:g.82969C>A , LRG_630:g.82969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3600C>A MANE Select	ENSP00000364839.4:p.Pro1200=
ENST00000646985.1:c.3417C>A	ENSP00000495053.1:p.Pro1139=
ENST00000647223.1:n.5953C>A
ENST00000651418.1:c.1869+1731C>A	ENSP00000499150.1:n.1869+1731C>A
ENST00000306058.9:c.3585C>A	ENSP00000305119.5:p.Pro1195=
ENST00000375687.8:c.3600C>A	ENSP00000364839.4:p.Pro1200=
ENST00000613218.4:c.3600C>A	ENSP00000480487.1:p.Pro1200=
ENST00000620121.4:c.3600C>A	ENSP00000481978.1:p.Pro1200=
NM_015338.5:c.3600C>A , LRG_630t1:c.3600C>A	NP_056153.2:p.Pro1200=
XM_006723727.2:c.3597C>A	XP_006723790.1:p.Pro1199=
XM_006723728.2:c.3570C>A	XP_006723791.1:p.Pro1190=
XM_006723730.2:c.3516C>A	XP_006723793.1:p.Pro1172=
XM_006723732.2:c.3417C>A	XP_006723795.1:p.Pro1139=
XM_006723733.1:c.2916C>A	XP_006723796.1:p.Pro972=
XM_011528647.1:c.3864C>A	XP_011526949.1:p.Pro1288=
XM_011528648.1:c.3861C>A	XP_011526950.1:p.Pro1287=
XM_011528649.1:c.3780C>A	XP_011526951.1:p.Pro1260=
XM_011528650.1:c.3711C>A	XP_011526952.1:p.Pro1237=
XM_011528651.1:c.3579C>A	XP_011526953.1:p.Pro1193=
XM_011528652.1:c.3516C>A	XP_011526954.1:p.Pro1172=
NM_001363734.1:c.3417C>A	NP_001350663.1:p.Pro1139=
XM_006723727.3:c.3597C>A	XP_006723790.1:p.Pro1199=
XM_006723728.3:c.3570C>A	XP_006723791.1:p.Pro1190=
XM_006723730.4:c.3516C>A	XP_006723793.1:p.Pro1172=
XM_011528648.3:c.3861C>A	XP_011526950.1:p.Pro1287=
XM_011528652.2:c.3516C>A	XP_011526954.1:p.Pro1172=
XM_017027704.1:c.3516C>A	XP_016883193.1:p.Pro1172=
XM_017027705.1:c.3516C>A	XP_016883194.1:p.Pro1172=
XM_017027706.1:c.3447C>A	XP_016883195.1:p.Pro1149=
NM_015338.6:c.3600C>A MANE Select	NP_056153.2:p.Pro1200=