Canonical Allele Identifier: CA408563453

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2652255
• ClinVar RCV Id: RCV003431286
• COSMIC: COSM1025732
• MyVariant Identifiers: chr20:g.31024141G>A (hg19) ; chr20:g.32436338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436338G>A , CM000682.2:g.32436338G>A	GRCh38
NC_000020.10:g.31024141G>A , CM000682.1:g.31024141G>A	GRCh37
NC_000020.9:g.30487802G>A	NCBI36
NG_027868.1:g.82995G>A , LRG_630:g.82995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3626G>A MANE Select	ENSP00000364839.4:p.Ser1209Asn
ENST00000646985.1:c.3443G>A	ENSP00000495053.1:p.Ser1148Asn
ENST00000647223.1:n.5979G>A
ENST00000651418.1:c.1869+1757G>A	ENSP00000499150.1:n.1869+1757G>A
ENST00000306058.9:c.3611G>A	ENSP00000305119.5:p.Ser1204Asn
ENST00000375687.8:c.3626G>A	ENSP00000364839.4:p.Ser1209Asn
ENST00000613218.4:c.3626G>A	ENSP00000480487.1:p.Ser1209Asn
ENST00000620121.4:c.3626G>A	ENSP00000481978.1:p.Ser1209Asn
NM_015338.5:c.3626G>A , LRG_630t1:c.3626G>A	NP_056153.2:p.Ser1209Asn
XM_006723727.2:c.3623G>A	XP_006723790.1:p.Ser1208Asn
XM_006723728.2:c.3596G>A	XP_006723791.1:p.Ser1199Asn
XM_006723730.2:c.3542G>A	XP_006723793.1:p.Ser1181Asn
XM_006723732.2:c.3443G>A	XP_006723795.1:p.Ser1148Asn
XM_006723733.1:c.2942G>A	XP_006723796.1:p.Ser981Asn
XM_011528647.1:c.3890G>A	XP_011526949.1:p.Ser1297Asn
XM_011528648.1:c.3887G>A	XP_011526950.1:p.Ser1296Asn
XM_011528649.1:c.3806G>A	XP_011526951.1:p.Ser1269Asn
XM_011528650.1:c.3737G>A	XP_011526952.1:p.Ser1246Asn
XM_011528651.1:c.3605G>A	XP_011526953.1:p.Ser1202Asn
XM_011528652.1:c.3542G>A	XP_011526954.1:p.Ser1181Asn
NM_001363734.1:c.3443G>A	NP_001350663.1:p.Ser1148Asn
XM_006723727.3:c.3623G>A	XP_006723790.1:p.Ser1208Asn
XM_006723728.3:c.3596G>A	XP_006723791.1:p.Ser1199Asn
XM_006723730.4:c.3542G>A	XP_006723793.1:p.Ser1181Asn
XM_011528648.3:c.3887G>A	XP_011526950.1:p.Ser1296Asn
XM_011528652.2:c.3542G>A	XP_011526954.1:p.Ser1181Asn
XM_017027704.1:c.3542G>A	XP_016883193.1:p.Ser1181Asn
XM_017027705.1:c.3542G>A	XP_016883194.1:p.Ser1181Asn
XM_017027706.1:c.3473G>A	XP_016883195.1:p.Ser1158Asn
NM_015338.6:c.3626G>A MANE Select	NP_056153.2:p.Ser1209Asn