Canonical Allele Identifier: CA408563498

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024159C>T (hg19) ; chr20:g.32436356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436356C>T , CM000682.2:g.32436356C>T	GRCh38
NC_000020.10:g.31024159C>T , CM000682.1:g.31024159C>T	GRCh37
NC_000020.9:g.30487820C>T	NCBI36
NG_027868.1:g.83013C>T , LRG_630:g.83013C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3644C>T MANE Select	ENSP00000364839.4:p.Pro1215Leu
ENST00000646985.1:c.3461C>T	ENSP00000495053.1:p.Pro1154Leu
ENST00000647223.1:n.5997C>T
ENST00000651418.1:c.1869+1775C>T	ENSP00000499150.1:n.1869+1775C>T
ENST00000306058.9:c.3629C>T	ENSP00000305119.5:p.Pro1210Leu
ENST00000375687.8:c.3644C>T	ENSP00000364839.4:p.Pro1215Leu
ENST00000613218.4:c.3644C>T	ENSP00000480487.1:p.Pro1215Leu
ENST00000620121.4:c.3644C>T	ENSP00000481978.1:p.Pro1215Leu
NM_015338.5:c.3644C>T , LRG_630t1:c.3644C>T	NP_056153.2:p.Pro1215Leu
XM_006723727.2:c.3641C>T	XP_006723790.1:p.Pro1214Leu
XM_006723728.2:c.3614C>T	XP_006723791.1:p.Pro1205Leu
XM_006723730.2:c.3560C>T	XP_006723793.1:p.Pro1187Leu
XM_006723732.2:c.3461C>T	XP_006723795.1:p.Pro1154Leu
XM_006723733.1:c.2960C>T	XP_006723796.1:p.Pro987Leu
XM_011528647.1:c.3908C>T	XP_011526949.1:p.Pro1303Leu
XM_011528648.1:c.3905C>T	XP_011526950.1:p.Pro1302Leu
XM_011528649.1:c.3824C>T	XP_011526951.1:p.Pro1275Leu
XM_011528650.1:c.3755C>T	XP_011526952.1:p.Pro1252Leu
XM_011528651.1:c.3623C>T	XP_011526953.1:p.Pro1208Leu
XM_011528652.1:c.3560C>T	XP_011526954.1:p.Pro1187Leu
NM_001363734.1:c.3461C>T	NP_001350663.1:p.Pro1154Leu
XM_006723727.3:c.3641C>T	XP_006723790.1:p.Pro1214Leu
XM_006723728.3:c.3614C>T	XP_006723791.1:p.Pro1205Leu
XM_006723730.4:c.3560C>T	XP_006723793.1:p.Pro1187Leu
XM_011528648.3:c.3905C>T	XP_011526950.1:p.Pro1302Leu
XM_011528652.2:c.3560C>T	XP_011526954.1:p.Pro1187Leu
XM_017027704.1:c.3560C>T	XP_016883193.1:p.Pro1187Leu
XM_017027705.1:c.3560C>T	XP_016883194.1:p.Pro1187Leu
XM_017027706.1:c.3491C>T	XP_016883195.1:p.Pro1164Leu
NM_015338.6:c.3644C>T MANE Select	NP_056153.2:p.Pro1215Leu