Canonical Allele Identifier: CA408564458

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024622T>A (hg19) ; chr20:g.32436819T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436819T>A , CM000682.2:g.32436819T>A	GRCh38
NC_000020.10:g.31024622T>A , CM000682.1:g.31024622T>A	GRCh37
NC_000020.9:g.30488283T>A	NCBI36
NG_027868.1:g.83476T>A , LRG_630:g.83476T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4107T>A MANE Select	ENSP00000364839.4:p.Asn1369Lys
ENST00000646985.1:c.3924T>A	ENSP00000495053.1:p.Asn1308Lys
ENST00000647223.1:n.6460T>A
ENST00000651418.1:c.1870-1611T>A	ENSP00000499150.1:n.1870-1611T>A
ENST00000306058.9:c.4092T>A	ENSP00000305119.5:p.Asn1364Lys
ENST00000375687.8:c.4107T>A	ENSP00000364839.4:p.Asn1369Lys
ENST00000613218.4:c.4107T>A	ENSP00000480487.1:p.Asn1369Lys
ENST00000620121.4:c.4107T>A	ENSP00000481978.1:p.Asn1369Lys
NM_015338.5:c.4107T>A , LRG_630t1:c.4107T>A	NP_056153.2:p.Asn1369Lys
XM_006723727.2:c.4104T>A	XP_006723790.1:p.Asn1368Lys
XM_006723728.2:c.4077T>A	XP_006723791.1:p.Asn1359Lys
XM_006723730.2:c.4023T>A	XP_006723793.1:p.Asn1341Lys
XM_006723732.2:c.3924T>A	XP_006723795.1:p.Asn1308Lys
XM_006723733.1:c.3423T>A	XP_006723796.1:p.Asn1141Lys
XM_011528647.1:c.4371T>A	XP_011526949.1:p.Asn1457Lys
XM_011528648.1:c.4368T>A	XP_011526950.1:p.Asn1456Lys
XM_011528649.1:c.4287T>A	XP_011526951.1:p.Asn1429Lys
XM_011528650.1:c.4218T>A	XP_011526952.1:p.Asn1406Lys
XM_011528651.1:c.4086T>A	XP_011526953.1:p.Asn1362Lys
XM_011528652.1:c.4023T>A	XP_011526954.1:p.Asn1341Lys
NM_001363734.1:c.3924T>A	NP_001350663.1:p.Asn1308Lys
XM_006723727.3:c.4104T>A	XP_006723790.1:p.Asn1368Lys
XM_006723728.3:c.4077T>A	XP_006723791.1:p.Asn1359Lys
XM_006723730.4:c.4023T>A	XP_006723793.1:p.Asn1341Lys
XM_011528648.3:c.4368T>A	XP_011526950.1:p.Asn1456Lys
XM_011528652.2:c.4023T>A	XP_011526954.1:p.Asn1341Lys
XM_017027704.1:c.4023T>A	XP_016883193.1:p.Asn1341Lys
XM_017027705.1:c.4023T>A	XP_016883194.1:p.Asn1341Lys
XM_017027706.1:c.3954T>A	XP_016883195.1:p.Asn1318Lys
NM_015338.6:c.4107T>A MANE Select	NP_056153.2:p.Asn1369Lys