Canonical Allele Identifier: CA408563490

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024156A>T (hg19) ; chr20:g.32436353A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436353A>T , CM000682.2:g.32436353A>T	GRCh38
NC_000020.10:g.31024156A>T , CM000682.1:g.31024156A>T	GRCh37
NC_000020.9:g.30487817A>T	NCBI36
NG_027868.1:g.83010A>T , LRG_630:g.83010A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3641A>T MANE Select	ENSP00000364839.4:p.His1214Leu
ENST00000646985.1:c.3458A>T	ENSP00000495053.1:p.His1153Leu
ENST00000647223.1:n.5994A>T
ENST00000651418.1:c.1869+1772A>T	ENSP00000499150.1:n.1869+1772A>T
ENST00000306058.9:c.3626A>T	ENSP00000305119.5:p.His1209Leu
ENST00000375687.8:c.3641A>T	ENSP00000364839.4:p.His1214Leu
ENST00000613218.4:c.3641A>T	ENSP00000480487.1:p.His1214Leu
ENST00000620121.4:c.3641A>T	ENSP00000481978.1:p.His1214Leu
NM_015338.5:c.3641A>T , LRG_630t1:c.3641A>T	NP_056153.2:p.His1214Leu
XM_006723727.2:c.3638A>T	XP_006723790.1:p.His1213Leu
XM_006723728.2:c.3611A>T	XP_006723791.1:p.His1204Leu
XM_006723730.2:c.3557A>T	XP_006723793.1:p.His1186Leu
XM_006723732.2:c.3458A>T	XP_006723795.1:p.His1153Leu
XM_006723733.1:c.2957A>T	XP_006723796.1:p.His986Leu
XM_011528647.1:c.3905A>T	XP_011526949.1:p.His1302Leu
XM_011528648.1:c.3902A>T	XP_011526950.1:p.His1301Leu
XM_011528649.1:c.3821A>T	XP_011526951.1:p.His1274Leu
XM_011528650.1:c.3752A>T	XP_011526952.1:p.His1251Leu
XM_011528651.1:c.3620A>T	XP_011526953.1:p.His1207Leu
XM_011528652.1:c.3557A>T	XP_011526954.1:p.His1186Leu
NM_001363734.1:c.3458A>T	NP_001350663.1:p.His1153Leu
XM_006723727.3:c.3638A>T	XP_006723790.1:p.His1213Leu
XM_006723728.3:c.3611A>T	XP_006723791.1:p.His1204Leu
XM_006723730.4:c.3557A>T	XP_006723793.1:p.His1186Leu
XM_011528648.3:c.3902A>T	XP_011526950.1:p.His1301Leu
XM_011528652.2:c.3557A>T	XP_011526954.1:p.His1186Leu
XM_017027704.1:c.3557A>T	XP_016883193.1:p.His1186Leu
XM_017027705.1:c.3557A>T	XP_016883194.1:p.His1186Leu
XM_017027706.1:c.3488A>T	XP_016883195.1:p.His1163Leu
NM_015338.6:c.3641A>T MANE Select	NP_056153.2:p.His1214Leu