Canonical Allele Identifier: CA408564376

Gene: ASXL1

Linked Data

• dbSNP Id: rs1296966469
• COSMIC: COSM4385139 ; COSM4385140
• MyVariant Identifiers: chr20:g.31024584G>A (hg19) ; chr20:g.32436781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436781G>A , CM000682.2:g.32436781G>A	GRCh38
NC_000020.10:g.31024584G>A , CM000682.1:g.31024584G>A	GRCh37
NC_000020.9:g.30488245G>A	NCBI36
NG_027868.1:g.83438G>A , LRG_630:g.83438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4069G>A MANE Select	ENSP00000364839.4:p.Ala1357Thr
ENST00000646985.1:c.3886G>A	ENSP00000495053.1:p.Ala1296Thr
ENST00000647223.1:n.6422G>A
ENST00000651418.1:c.1870-1649G>A	ENSP00000499150.1:n.1870-1649G>A
ENST00000306058.9:c.4054G>A	ENSP00000305119.5:p.Ala1352Thr
ENST00000375687.8:c.4069G>A	ENSP00000364839.4:p.Ala1357Thr
ENST00000613218.4:c.4069G>A	ENSP00000480487.1:p.Ala1357Thr
ENST00000620121.4:c.4069G>A	ENSP00000481978.1:p.Ala1357Thr
NM_015338.5:c.4069G>A , LRG_630t1:c.4069G>A	NP_056153.2:p.Ala1357Thr
XM_006723727.2:c.4066G>A	XP_006723790.1:p.Ala1356Thr
XM_006723728.2:c.4039G>A	XP_006723791.1:p.Ala1347Thr
XM_006723730.2:c.3985G>A	XP_006723793.1:p.Ala1329Thr
XM_006723732.2:c.3886G>A	XP_006723795.1:p.Ala1296Thr
XM_006723733.1:c.3385G>A	XP_006723796.1:p.Ala1129Thr
XM_011528647.1:c.4333G>A	XP_011526949.1:p.Ala1445Thr
XM_011528648.1:c.4330G>A	XP_011526950.1:p.Ala1444Thr
XM_011528649.1:c.4249G>A	XP_011526951.1:p.Ala1417Thr
XM_011528650.1:c.4180G>A	XP_011526952.1:p.Ala1394Thr
XM_011528651.1:c.4048G>A	XP_011526953.1:p.Ala1350Thr
XM_011528652.1:c.3985G>A	XP_011526954.1:p.Ala1329Thr
NM_001363734.1:c.3886G>A	NP_001350663.1:p.Ala1296Thr
XM_006723727.3:c.4066G>A	XP_006723790.1:p.Ala1356Thr
XM_006723728.3:c.4039G>A	XP_006723791.1:p.Ala1347Thr
XM_006723730.4:c.3985G>A	XP_006723793.1:p.Ala1329Thr
XM_011528648.3:c.4330G>A	XP_011526950.1:p.Ala1444Thr
XM_011528652.2:c.3985G>A	XP_011526954.1:p.Ala1329Thr
XM_017027704.1:c.3985G>A	XP_016883193.1:p.Ala1329Thr
XM_017027705.1:c.3985G>A	XP_016883194.1:p.Ala1329Thr
XM_017027706.1:c.3916G>A	XP_016883195.1:p.Ala1306Thr
NM_015338.6:c.4069G>A MANE Select	NP_056153.2:p.Ala1357Thr