Canonical Allele Identifier: CA408551646

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016030A>T (hg19) ; chr20:g.32428227A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428227A>T , CM000682.2:g.32428227A>T	GRCh38
NC_000020.10:g.31016030A>T , CM000682.1:g.31016030A>T	GRCh37
NC_000020.9:g.30479691A>T	NCBI36
NG_027868.1:g.74884A>T , LRG_630:g.74884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.352A>T MANE Select	ENSP00000364839.4:p.Thr118Ser
ENST00000470145.3:n.295A>T
ENST00000643168.1:c.268A>T	ENSP00000495003.1:p.Thr90Ser
ENST00000644060.1:n.1156A>T
ENST00000644587.1:c.*191A>T	ENSP00000494813.1:n.*191A>T
ENST00000644615.1:n.56A>T
ENST00000645514.1:n.100A>T
ENST00000646985.1:c.322A>T	ENSP00000495053.1:p.Thr108Ser
ENST00000651418.1:c.352A>T	ENSP00000499150.1:p.Thr118Ser
ENST00000306058.9:c.337A>T	ENSP00000305119.5:p.Thr113Ser
ENST00000375687.8:c.352A>T	ENSP00000364839.4:p.Thr118Ser
ENST00000470145.2:n.295A>T
ENST00000613218.4:c.352A>T	ENSP00000480487.1:p.Thr118Ser
ENST00000620121.4:c.352A>T	ENSP00000481978.1:p.Thr118Ser
NM_015338.5:c.352A>T , LRG_630t1:c.352A>T	NP_056153.2:p.Thr118Ser
XM_006723727.2:c.349A>T	XP_006723790.1:p.Thr117Ser
XM_006723728.2:c.322A>T	XP_006723791.1:p.Thr108Ser
XM_006723730.2:c.268A>T	XP_006723793.1:p.Thr90Ser
XM_006723732.2:c.322A>T	XP_006723795.1:p.Thr108Ser
XM_011528647.1:c.616A>T	XP_011526949.1:p.Thr206Ser
XM_011528648.1:c.613A>T	XP_011526950.1:p.Thr205Ser
XM_011528649.1:c.532A>T	XP_011526951.1:p.Thr178Ser
XM_011528650.1:c.616A>T	XP_011526952.1:p.Thr206Ser
XM_011528651.1:c.331A>T	XP_011526953.1:p.Thr111Ser
XM_011528652.1:c.268A>T	XP_011526954.1:p.Thr90Ser
NM_001363734.1:c.322A>T	NP_001350663.1:p.Thr108Ser
XM_006723727.3:c.349A>T	XP_006723790.1:p.Thr117Ser
XM_006723728.3:c.322A>T	XP_006723791.1:p.Thr108Ser
XM_006723730.4:c.268A>T	XP_006723793.1:p.Thr90Ser
XM_011528648.3:c.613A>T	XP_011526950.1:p.Thr205Ser
XM_011528652.2:c.268A>T	XP_011526954.1:p.Thr90Ser
XM_017027704.1:c.268A>T	XP_016883193.1:p.Thr90Ser
XM_017027705.1:c.268A>T	XP_016883194.1:p.Thr90Ser
XM_017027706.1:c.352A>T	XP_016883195.1:p.Thr118Ser
NM_015338.6:c.352A>T MANE Select	NP_056153.2:p.Thr118Ser