Canonical Allele Identifier: CA408563890

Gene: ASXL1

Linked Data

• COSMIC: COSM5632912 ; COSM5632913
• MyVariant Identifiers: chr20:g.31024348A>G (hg19) ; chr20:g.32436545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436545A>G , CM000682.2:g.32436545A>G	GRCh38
NC_000020.10:g.31024348A>G , CM000682.1:g.31024348A>G	GRCh37
NC_000020.9:g.30488009A>G	NCBI36
NG_027868.1:g.83202A>G , LRG_630:g.83202A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3833A>G MANE Select	ENSP00000364839.4:p.Asn1278Ser
ENST00000646985.1:c.3650A>G	ENSP00000495053.1:p.Asn1217Ser
ENST00000647223.1:n.6186A>G
ENST00000651418.1:c.1870-1885A>G	ENSP00000499150.1:n.1870-1885A>G
ENST00000306058.9:c.3818A>G	ENSP00000305119.5:p.Asn1273Ser
ENST00000375687.8:c.3833A>G	ENSP00000364839.4:p.Asn1278Ser
ENST00000613218.4:c.3833A>G	ENSP00000480487.1:p.Asn1278Ser
ENST00000620121.4:c.3833A>G	ENSP00000481978.1:p.Asn1278Ser
NM_015338.5:c.3833A>G , LRG_630t1:c.3833A>G	NP_056153.2:p.Asn1278Ser
XM_006723727.2:c.3830A>G	XP_006723790.1:p.Asn1277Ser
XM_006723728.2:c.3803A>G	XP_006723791.1:p.Asn1268Ser
XM_006723730.2:c.3749A>G	XP_006723793.1:p.Asn1250Ser
XM_006723732.2:c.3650A>G	XP_006723795.1:p.Asn1217Ser
XM_006723733.1:c.3149A>G	XP_006723796.1:p.Asn1050Ser
XM_011528647.1:c.4097A>G	XP_011526949.1:p.Asn1366Ser
XM_011528648.1:c.4094A>G	XP_011526950.1:p.Asn1365Ser
XM_011528649.1:c.4013A>G	XP_011526951.1:p.Asn1338Ser
XM_011528650.1:c.3944A>G	XP_011526952.1:p.Asn1315Ser
XM_011528651.1:c.3812A>G	XP_011526953.1:p.Asn1271Ser
XM_011528652.1:c.3749A>G	XP_011526954.1:p.Asn1250Ser
NM_001363734.1:c.3650A>G	NP_001350663.1:p.Asn1217Ser
XM_006723727.3:c.3830A>G	XP_006723790.1:p.Asn1277Ser
XM_006723728.3:c.3803A>G	XP_006723791.1:p.Asn1268Ser
XM_006723730.4:c.3749A>G	XP_006723793.1:p.Asn1250Ser
XM_011528648.3:c.4094A>G	XP_011526950.1:p.Asn1365Ser
XM_011528652.2:c.3749A>G	XP_011526954.1:p.Asn1250Ser
XM_017027704.1:c.3749A>G	XP_016883193.1:p.Asn1250Ser
XM_017027705.1:c.3749A>G	XP_016883194.1:p.Asn1250Ser
XM_017027706.1:c.3680A>G	XP_016883195.1:p.Asn1227Ser
NM_015338.6:c.3833A>G MANE Select	NP_056153.2:p.Asn1278Ser