Canonical Allele Identifier: CA9808896

Gene: ASXL1

Linked Data

• dbSNP Id: rs763441935
• ExAC: 20:31024282 A / T
• gnomAD v2: 20-31024282-A-T
• gnomAD v4: 20-32436479-A-T
• MyVariant Identifiers: chr20:g.31024282A>T (hg19) ; chr20:g.32436479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436479A>T , CM000682.2:g.32436479A>T	GRCh38
NC_000020.10:g.31024282A>T , CM000682.1:g.31024282A>T	GRCh37
NC_000020.9:g.30487943A>T	NCBI36
NG_027868.1:g.83136A>T , LRG_630:g.83136A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3767A>T MANE Select	ENSP00000364839.4:p.Asn1256Ile
ENST00000646985.1:c.3584A>T	ENSP00000495053.1:p.Asn1195Ile
ENST00000647223.1:n.6120A>T
ENST00000651418.1:c.1869+1898A>T	ENSP00000499150.1:n.1869+1898A>T
ENST00000306058.9:c.3752A>T	ENSP00000305119.5:p.Asn1251Ile
ENST00000375687.8:c.3767A>T	ENSP00000364839.4:p.Asn1256Ile
ENST00000613218.4:c.3767A>T	ENSP00000480487.1:p.Asn1256Ile
ENST00000620121.4:c.3767A>T	ENSP00000481978.1:p.Asn1256Ile
NM_015338.5:c.3767A>T , LRG_630t1:c.3767A>T	NP_056153.2:p.Asn1256Ile
XM_006723727.2:c.3764A>T	XP_006723790.1:p.Asn1255Ile
XM_006723728.2:c.3737A>T	XP_006723791.1:p.Asn1246Ile
XM_006723730.2:c.3683A>T	XP_006723793.1:p.Asn1228Ile
XM_006723732.2:c.3584A>T	XP_006723795.1:p.Asn1195Ile
XM_006723733.1:c.3083A>T	XP_006723796.1:p.Asn1028Ile
XM_011528647.1:c.4031A>T	XP_011526949.1:p.Asn1344Ile
XM_011528648.1:c.4028A>T	XP_011526950.1:p.Asn1343Ile
XM_011528649.1:c.3947A>T	XP_011526951.1:p.Asn1316Ile
XM_011528650.1:c.3878A>T	XP_011526952.1:p.Asn1293Ile
XM_011528651.1:c.3746A>T	XP_011526953.1:p.Asn1249Ile
XM_011528652.1:c.3683A>T	XP_011526954.1:p.Asn1228Ile
NM_001363734.1:c.3584A>T	NP_001350663.1:p.Asn1195Ile
XM_006723727.3:c.3764A>T	XP_006723790.1:p.Asn1255Ile
XM_006723728.3:c.3737A>T	XP_006723791.1:p.Asn1246Ile
XM_006723730.4:c.3683A>T	XP_006723793.1:p.Asn1228Ile
XM_011528648.3:c.4028A>T	XP_011526950.1:p.Asn1343Ile
XM_011528652.2:c.3683A>T	XP_011526954.1:p.Asn1228Ile
XM_017027704.1:c.3683A>T	XP_016883193.1:p.Asn1228Ile
XM_017027705.1:c.3683A>T	XP_016883194.1:p.Asn1228Ile
XM_017027706.1:c.3614A>T	XP_016883195.1:p.Asn1205Ile
NM_015338.6:c.3767A>T MANE Select	NP_056153.2:p.Asn1256Ile