Canonical Allele Identifier: CA408551589

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016016C>A (hg19) ; chr20:g.32428213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428213C>A , CM000682.2:g.32428213C>A	GRCh38
NC_000020.10:g.31016016C>A , CM000682.1:g.31016016C>A	GRCh37
NC_000020.9:g.30479677C>A	NCBI36
NG_027868.1:g.74870C>A , LRG_630:g.74870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.338C>A MANE Select	ENSP00000364839.4:p.Ser113Tyr
ENST00000470145.3:n.281C>A
ENST00000643168.1:c.254C>A	ENSP00000495003.1:p.Ser85Tyr
ENST00000644060.1:n.1142C>A
ENST00000644587.1:c.*177C>A	ENSP00000494813.1:n.*177C>A
ENST00000644615.1:n.42C>A
ENST00000645514.1:n.86C>A
ENST00000646985.1:c.308C>A	ENSP00000495053.1:p.Ser103Tyr
ENST00000651418.1:c.338C>A	ENSP00000499150.1:p.Ser113Tyr
ENST00000306058.9:c.323C>A	ENSP00000305119.5:p.Ser108Tyr
ENST00000375687.8:c.338C>A	ENSP00000364839.4:p.Ser113Tyr
ENST00000470145.2:n.281C>A
ENST00000613218.4:c.338C>A	ENSP00000480487.1:p.Ser113Tyr
ENST00000620121.4:c.338C>A	ENSP00000481978.1:p.Ser113Tyr
NM_015338.5:c.338C>A , LRG_630t1:c.338C>A	NP_056153.2:p.Ser113Tyr
XM_006723727.2:c.335C>A	XP_006723790.1:p.Ser112Tyr
XM_006723728.2:c.308C>A	XP_006723791.1:p.Ser103Tyr
XM_006723730.2:c.254C>A	XP_006723793.1:p.Ser85Tyr
XM_006723732.2:c.308C>A	XP_006723795.1:p.Ser103Tyr
XM_011528647.1:c.602C>A	XP_011526949.1:p.Ser201Tyr
XM_011528648.1:c.599C>A	XP_011526950.1:p.Ser200Tyr
XM_011528649.1:c.518C>A	XP_011526951.1:p.Ser173Tyr
XM_011528650.1:c.602C>A	XP_011526952.1:p.Ser201Tyr
XM_011528651.1:c.317C>A	XP_011526953.1:p.Ser106Tyr
XM_011528652.1:c.254C>A	XP_011526954.1:p.Ser85Tyr
NM_001363734.1:c.308C>A	NP_001350663.1:p.Ser103Tyr
XM_006723727.3:c.335C>A	XP_006723790.1:p.Ser112Tyr
XM_006723728.3:c.308C>A	XP_006723791.1:p.Ser103Tyr
XM_006723730.4:c.254C>A	XP_006723793.1:p.Ser85Tyr
XM_011528648.3:c.599C>A	XP_011526950.1:p.Ser200Tyr
XM_011528652.2:c.254C>A	XP_011526954.1:p.Ser85Tyr
XM_017027704.1:c.254C>A	XP_016883193.1:p.Ser85Tyr
XM_017027705.1:c.254C>A	XP_016883194.1:p.Ser85Tyr
XM_017027706.1:c.338C>A	XP_016883195.1:p.Ser113Tyr
NM_015338.6:c.338C>A MANE Select	NP_056153.2:p.Ser113Tyr