Canonical Allele Identifier: CA408562874

Gene: ASXL1

Linked Data

• dbSNP Id: rs1172005201
• gnomAD v4: 20-32436061-C-A
• MyVariant Identifiers: chr20:g.31023864C>A (hg19) ; chr20:g.32436061C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436061C>A , CM000682.2:g.32436061C>A	GRCh38
NC_000020.10:g.31023864C>A , CM000682.1:g.31023864C>A	GRCh37
NC_000020.9:g.30487525C>A	NCBI36
NG_027868.1:g.82718C>A , LRG_630:g.82718C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3349C>A MANE Select	ENSP00000364839.4:p.Pro1117Thr
ENST00000646985.1:c.3166C>A	ENSP00000495053.1:p.Pro1056Thr
ENST00000647223.1:n.5702C>A
ENST00000651418.1:c.1869+1480C>A	ENSP00000499150.1:n.1869+1480C>A
ENST00000306058.9:c.3334C>A	ENSP00000305119.5:p.Pro1112Thr
ENST00000375687.8:c.3349C>A	ENSP00000364839.4:p.Pro1117Thr
ENST00000613218.4:c.3349C>A	ENSP00000480487.1:p.Pro1117Thr
ENST00000620121.4:c.3349C>A	ENSP00000481978.1:p.Pro1117Thr
NM_015338.5:c.3349C>A , LRG_630t1:c.3349C>A	NP_056153.2:p.Pro1117Thr
XM_006723727.2:c.3346C>A	XP_006723790.1:p.Pro1116Thr
XM_006723728.2:c.3319C>A	XP_006723791.1:p.Pro1107Thr
XM_006723730.2:c.3265C>A	XP_006723793.1:p.Pro1089Thr
XM_006723732.2:c.3166C>A	XP_006723795.1:p.Pro1056Thr
XM_006723733.1:c.2665C>A	XP_006723796.1:p.Pro889Thr
XM_011528647.1:c.3613C>A	XP_011526949.1:p.Pro1205Thr
XM_011528648.1:c.3610C>A	XP_011526950.1:p.Pro1204Thr
XM_011528649.1:c.3529C>A	XP_011526951.1:p.Pro1177Thr
XM_011528650.1:c.3460C>A	XP_011526952.1:p.Pro1154Thr
XM_011528651.1:c.3328C>A	XP_011526953.1:p.Pro1110Thr
XM_011528652.1:c.3265C>A	XP_011526954.1:p.Pro1089Thr
NM_001363734.1:c.3166C>A	NP_001350663.1:p.Pro1056Thr
XM_006723727.3:c.3346C>A	XP_006723790.1:p.Pro1116Thr
XM_006723728.3:c.3319C>A	XP_006723791.1:p.Pro1107Thr
XM_006723730.4:c.3265C>A	XP_006723793.1:p.Pro1089Thr
XM_011528648.3:c.3610C>A	XP_011526950.1:p.Pro1204Thr
XM_011528652.2:c.3265C>A	XP_011526954.1:p.Pro1089Thr
XM_017027704.1:c.3265C>A	XP_016883193.1:p.Pro1089Thr
XM_017027705.1:c.3265C>A	XP_016883194.1:p.Pro1089Thr
XM_017027706.1:c.3196C>A	XP_016883195.1:p.Pro1066Thr
NM_015338.6:c.3349C>A MANE Select	NP_056153.2:p.Pro1117Thr