Canonical Allele Identifier: CA510200438

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016002G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428199G>A , CM000682.2:g.32428199G>A	GRCh38
NC_000020.10:g.31016002G>A , CM000682.1:g.31016002G>A	GRCh37
NC_000020.9:g.30479663G>A	NCBI36
NG_027868.1:g.74856G>A , LRG_630:g.74856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.324G>A MANE Select	ENSP00000364839.4:p.Val108=
ENST00000470145.3:n.267G>A
ENST00000643168.1:c.240G>A	ENSP00000495003.1:p.Val80=
ENST00000644060.1:n.1128G>A
ENST00000644587.1:c.*163G>A	ENSP00000494813.1:n.*163G>A
ENST00000644615.1:n.28G>A
ENST00000645514.1:n.72G>A
ENST00000646985.1:c.294G>A	ENSP00000495053.1:p.Val98=
ENST00000651418.1:c.324G>A	ENSP00000499150.1:p.Val108=
ENST00000306058.9:c.309G>A	ENSP00000305119.5:p.Val103=
ENST00000375687.8:c.324G>A	ENSP00000364839.4:p.Val108=
ENST00000470145.2:n.267G>A
ENST00000613218.4:c.324G>A	ENSP00000480487.1:p.Val108=
ENST00000620121.4:c.324G>A	ENSP00000481978.1:p.Val108=
NM_015338.5:c.324G>A , LRG_630t1:c.324G>A	NP_056153.2:p.Val108=
XM_006723727.2:c.321G>A	XP_006723790.1:p.Val107=
XM_006723728.2:c.294G>A	XP_006723791.1:p.Val98=
XM_006723730.2:c.240G>A	XP_006723793.1:p.Val80=
XM_006723732.2:c.294G>A	XP_006723795.1:p.Val98=
XM_011528647.1:c.588G>A	XP_011526949.1:p.Val196=
XM_011528648.1:c.585G>A	XP_011526950.1:p.Val195=
XM_011528649.1:c.504G>A	XP_011526951.1:p.Val168=
XM_011528650.1:c.588G>A	XP_011526952.1:p.Val196=
XM_011528651.1:c.303G>A	XP_011526953.1:p.Val101=
XM_011528652.1:c.240G>A	XP_011526954.1:p.Val80=
NM_001363734.1:c.294G>A	NP_001350663.1:p.Val98=
XM_006723727.3:c.321G>A	XP_006723790.1:p.Val107=
XM_006723728.3:c.294G>A	XP_006723791.1:p.Val98=
XM_006723730.4:c.240G>A	XP_006723793.1:p.Val80=
XM_011528648.3:c.585G>A	XP_011526950.1:p.Val195=
XM_011528652.2:c.240G>A	XP_011526954.1:p.Val80=
XM_017027704.1:c.240G>A	XP_016883193.1:p.Val80=
XM_017027705.1:c.240G>A	XP_016883194.1:p.Val80=
XM_017027706.1:c.324G>A	XP_016883195.1:p.Val108=
NM_015338.6:c.324G>A MANE Select	NP_056153.2:p.Val108=