Canonical Allele Identifier: CA408564379

Gene: ASXL1

Linked Data

• dbSNP Id: rs1221149032
• gnomAD v4: 20-32436782-C-T
• MyVariant Identifiers: chr20:g.31024585C>T (hg19) ; chr20:g.32436782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436782C>T , CM000682.2:g.32436782C>T	GRCh38
NC_000020.10:g.31024585C>T , CM000682.1:g.31024585C>T	GRCh37
NC_000020.9:g.30488246C>T	NCBI36
NG_027868.1:g.83439C>T , LRG_630:g.83439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4070C>T MANE Select	ENSP00000364839.4:p.Ala1357Val
ENST00000646985.1:c.3887C>T	ENSP00000495053.1:p.Ala1296Val
ENST00000647223.1:n.6423C>T
ENST00000651418.1:c.1870-1648C>T	ENSP00000499150.1:n.1870-1648C>T
ENST00000306058.9:c.4055C>T	ENSP00000305119.5:p.Ala1352Val
ENST00000375687.8:c.4070C>T	ENSP00000364839.4:p.Ala1357Val
ENST00000613218.4:c.4070C>T	ENSP00000480487.1:p.Ala1357Val
ENST00000620121.4:c.4070C>T	ENSP00000481978.1:p.Ala1357Val
NM_015338.5:c.4070C>T , LRG_630t1:c.4070C>T	NP_056153.2:p.Ala1357Val
XM_006723727.2:c.4067C>T	XP_006723790.1:p.Ala1356Val
XM_006723728.2:c.4040C>T	XP_006723791.1:p.Ala1347Val
XM_006723730.2:c.3986C>T	XP_006723793.1:p.Ala1329Val
XM_006723732.2:c.3887C>T	XP_006723795.1:p.Ala1296Val
XM_006723733.1:c.3386C>T	XP_006723796.1:p.Ala1129Val
XM_011528647.1:c.4334C>T	XP_011526949.1:p.Ala1445Val
XM_011528648.1:c.4331C>T	XP_011526950.1:p.Ala1444Val
XM_011528649.1:c.4250C>T	XP_011526951.1:p.Ala1417Val
XM_011528650.1:c.4181C>T	XP_011526952.1:p.Ala1394Val
XM_011528651.1:c.4049C>T	XP_011526953.1:p.Ala1350Val
XM_011528652.1:c.3986C>T	XP_011526954.1:p.Ala1329Val
NM_001363734.1:c.3887C>T	NP_001350663.1:p.Ala1296Val
XM_006723727.3:c.4067C>T	XP_006723790.1:p.Ala1356Val
XM_006723728.3:c.4040C>T	XP_006723791.1:p.Ala1347Val
XM_006723730.4:c.3986C>T	XP_006723793.1:p.Ala1329Val
XM_011528648.3:c.4331C>T	XP_011526950.1:p.Ala1444Val
XM_011528652.2:c.3986C>T	XP_011526954.1:p.Ala1329Val
XM_017027704.1:c.3986C>T	XP_016883193.1:p.Ala1329Val
XM_017027705.1:c.3986C>T	XP_016883194.1:p.Ala1329Val
XM_017027706.1:c.3917C>T	XP_016883195.1:p.Ala1306Val
NM_015338.6:c.4070C>T MANE Select	NP_056153.2:p.Ala1357Val