Canonical Allele Identifier: CA408551533

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016001T>C (hg19) ; chr20:g.32428198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428198T>C , CM000682.2:g.32428198T>C	GRCh38
NC_000020.10:g.31016001T>C , CM000682.1:g.31016001T>C	GRCh37
NC_000020.9:g.30479662T>C	NCBI36
NG_027868.1:g.74855T>C , LRG_630:g.74855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.323T>C MANE Select	ENSP00000364839.4:p.Val108Ala
ENST00000470145.3:n.266T>C
ENST00000643168.1:c.239T>C	ENSP00000495003.1:p.Val80Ala
ENST00000644060.1:n.1127T>C
ENST00000644587.1:c.*162T>C	ENSP00000494813.1:n.*162T>C
ENST00000644615.1:n.27T>C
ENST00000645514.1:n.71T>C
ENST00000646985.1:c.293T>C	ENSP00000495053.1:p.Val98Ala
ENST00000651418.1:c.323T>C	ENSP00000499150.1:p.Val108Ala
ENST00000306058.9:c.308T>C	ENSP00000305119.5:p.Val103Ala
ENST00000375687.8:c.323T>C	ENSP00000364839.4:p.Val108Ala
ENST00000470145.2:n.266T>C
ENST00000613218.4:c.323T>C	ENSP00000480487.1:p.Val108Ala
ENST00000620121.4:c.323T>C	ENSP00000481978.1:p.Val108Ala
NM_015338.5:c.323T>C , LRG_630t1:c.323T>C	NP_056153.2:p.Val108Ala
XM_006723727.2:c.320T>C	XP_006723790.1:p.Val107Ala
XM_006723728.2:c.293T>C	XP_006723791.1:p.Val98Ala
XM_006723730.2:c.239T>C	XP_006723793.1:p.Val80Ala
XM_006723732.2:c.293T>C	XP_006723795.1:p.Val98Ala
XM_011528647.1:c.587T>C	XP_011526949.1:p.Val196Ala
XM_011528648.1:c.584T>C	XP_011526950.1:p.Val195Ala
XM_011528649.1:c.503T>C	XP_011526951.1:p.Val168Ala
XM_011528650.1:c.587T>C	XP_011526952.1:p.Val196Ala
XM_011528651.1:c.302T>C	XP_011526953.1:p.Val101Ala
XM_011528652.1:c.239T>C	XP_011526954.1:p.Val80Ala
NM_001363734.1:c.293T>C	NP_001350663.1:p.Val98Ala
XM_006723727.3:c.320T>C	XP_006723790.1:p.Val107Ala
XM_006723728.3:c.293T>C	XP_006723791.1:p.Val98Ala
XM_006723730.4:c.239T>C	XP_006723793.1:p.Val80Ala
XM_011528648.3:c.584T>C	XP_011526950.1:p.Val195Ala
XM_011528652.2:c.239T>C	XP_011526954.1:p.Val80Ala
XM_017027704.1:c.239T>C	XP_016883193.1:p.Val80Ala
XM_017027705.1:c.239T>C	XP_016883194.1:p.Val80Ala
XM_017027706.1:c.323T>C	XP_016883195.1:p.Val108Ala
NM_015338.6:c.323T>C MANE Select	NP_056153.2:p.Val108Ala