Canonical Allele Identifier: CA510200510

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016183A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428380A>C , CM000682.2:g.32428380A>C	GRCh38
NC_000020.10:g.31016183A>C , CM000682.1:g.31016183A>C	GRCh37
NC_000020.9:g.30479844A>C	NCBI36
NG_027868.1:g.75037A>C , LRG_630:g.75037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.429A>C MANE Select	ENSP00000364839.4:p.Arg143=
ENST00000470145.3:n.448A>C
ENST00000643168.1:c.345A>C	ENSP00000495003.1:p.Arg115=
ENST00000644587.1:c.*268A>C	ENSP00000494813.1:n.*268A>C
ENST00000644615.1:n.133A>C
ENST00000645514.1:n.253A>C
ENST00000646985.1:c.399A>C	ENSP00000495053.1:p.Arg133=
ENST00000651418.1:c.429A>C	ENSP00000499150.1:p.Arg143=
ENST00000306058.9:c.414A>C	ENSP00000305119.5:p.Arg138=
ENST00000375687.8:c.429A>C	ENSP00000364839.4:p.Arg143=
ENST00000470145.2:n.448A>C
ENST00000613218.4:c.429A>C	ENSP00000480487.1:p.Arg143=
ENST00000620121.4:c.429A>C	ENSP00000481978.1:p.Arg143=
NM_015338.5:c.429A>C , LRG_630t1:c.429A>C	NP_056153.2:p.Arg143=
XM_006723727.2:c.426A>C	XP_006723790.1:p.Arg142=
XM_006723728.2:c.399A>C	XP_006723791.1:p.Arg133=
XM_006723730.2:c.345A>C	XP_006723793.1:p.Arg115=
XM_006723732.2:c.399A>C	XP_006723795.1:p.Arg133=
XM_011528647.1:c.693A>C	XP_011526949.1:p.Arg231=
XM_011528648.1:c.690A>C	XP_011526950.1:p.Arg230=
XM_011528649.1:c.609A>C	XP_011526951.1:p.Arg203=
XM_011528650.1:c.693A>C	XP_011526952.1:p.Arg231=
XM_011528651.1:c.408A>C	XP_011526953.1:p.Arg136=
XM_011528652.1:c.345A>C	XP_011526954.1:p.Arg115=
NM_001363734.1:c.399A>C	NP_001350663.1:p.Arg133=
XM_006723727.3:c.426A>C	XP_006723790.1:p.Arg142=
XM_006723728.3:c.399A>C	XP_006723791.1:p.Arg133=
XM_006723730.4:c.345A>C	XP_006723793.1:p.Arg115=
XM_011528648.3:c.690A>C	XP_011526950.1:p.Arg230=
XM_011528652.2:c.345A>C	XP_011526954.1:p.Arg115=
XM_017027704.1:c.345A>C	XP_016883193.1:p.Arg115=
XM_017027705.1:c.345A>C	XP_016883194.1:p.Arg115=
XM_017027706.1:c.429A>C	XP_016883195.1:p.Arg143=
NM_015338.6:c.429A>C MANE Select	NP_056153.2:p.Arg143=