Canonical Allele Identifier: CA408564453

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436817-A-G
• MyVariant Identifiers: chr20:g.31024620A>G (hg19) ; chr20:g.32436817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436817A>G , CM000682.2:g.32436817A>G	GRCh38
NC_000020.10:g.31024620A>G , CM000682.1:g.31024620A>G	GRCh37
NC_000020.9:g.30488281A>G	NCBI36
NG_027868.1:g.83474A>G , LRG_630:g.83474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4105A>G MANE Select	ENSP00000364839.4:p.Asn1369Asp
ENST00000646985.1:c.3922A>G	ENSP00000495053.1:p.Asn1308Asp
ENST00000647223.1:n.6458A>G
ENST00000651418.1:c.1870-1613A>G	ENSP00000499150.1:n.1870-1613A>G
ENST00000306058.9:c.4090A>G	ENSP00000305119.5:p.Asn1364Asp
ENST00000375687.8:c.4105A>G	ENSP00000364839.4:p.Asn1369Asp
ENST00000613218.4:c.4105A>G	ENSP00000480487.1:p.Asn1369Asp
ENST00000620121.4:c.4105A>G	ENSP00000481978.1:p.Asn1369Asp
NM_015338.5:c.4105A>G , LRG_630t1:c.4105A>G	NP_056153.2:p.Asn1369Asp
XM_006723727.2:c.4102A>G	XP_006723790.1:p.Asn1368Asp
XM_006723728.2:c.4075A>G	XP_006723791.1:p.Asn1359Asp
XM_006723730.2:c.4021A>G	XP_006723793.1:p.Asn1341Asp
XM_006723732.2:c.3922A>G	XP_006723795.1:p.Asn1308Asp
XM_006723733.1:c.3421A>G	XP_006723796.1:p.Asn1141Asp
XM_011528647.1:c.4369A>G	XP_011526949.1:p.Asn1457Asp
XM_011528648.1:c.4366A>G	XP_011526950.1:p.Asn1456Asp
XM_011528649.1:c.4285A>G	XP_011526951.1:p.Asn1429Asp
XM_011528650.1:c.4216A>G	XP_011526952.1:p.Asn1406Asp
XM_011528651.1:c.4084A>G	XP_011526953.1:p.Asn1362Asp
XM_011528652.1:c.4021A>G	XP_011526954.1:p.Asn1341Asp
NM_001363734.1:c.3922A>G	NP_001350663.1:p.Asn1308Asp
XM_006723727.3:c.4102A>G	XP_006723790.1:p.Asn1368Asp
XM_006723728.3:c.4075A>G	XP_006723791.1:p.Asn1359Asp
XM_006723730.4:c.4021A>G	XP_006723793.1:p.Asn1341Asp
XM_011528648.3:c.4366A>G	XP_011526950.1:p.Asn1456Asp
XM_011528652.2:c.4021A>G	XP_011526954.1:p.Asn1341Asp
XM_017027704.1:c.4021A>G	XP_016883193.1:p.Asn1341Asp
XM_017027705.1:c.4021A>G	XP_016883194.1:p.Asn1341Asp
XM_017027706.1:c.3952A>G	XP_016883195.1:p.Asn1318Asp
NM_015338.6:c.4105A>G MANE Select	NP_056153.2:p.Asn1369Asp