Canonical Allele Identifier: CA408551407

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31015968T>G (hg19) ; chr20:g.32428165T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428165T>G , CM000682.2:g.32428165T>G	GRCh38
NC_000020.10:g.31015968T>G , CM000682.1:g.31015968T>G	GRCh37
NC_000020.9:g.30479629T>G	NCBI36
NG_027868.1:g.74822T>G , LRG_630:g.74822T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.290T>G MANE Select	ENSP00000364839.4:p.Val97Gly
ENST00000470145.3:n.233T>G
ENST00000643168.1:c.206T>G	ENSP00000495003.1:p.Val69Gly
ENST00000644060.1:n.1094T>G
ENST00000644587.1:c.*129T>G	ENSP00000494813.1:n.*129T>G
ENST00000645514.1:n.38T>G
ENST00000645688.1:c.206T>G	ENSP00000495488.1:p.Val69Gly
ENST00000646985.1:c.260T>G	ENSP00000495053.1:p.Val87Gly
ENST00000651418.1:c.290T>G	ENSP00000499150.1:p.Val97Gly
ENST00000306058.9:c.275T>G	ENSP00000305119.5:p.Val92Gly
ENST00000375687.8:c.290T>G	ENSP00000364839.4:p.Val97Gly
ENST00000470145.2:n.233T>G
ENST00000613218.4:c.290T>G	ENSP00000480487.1:p.Val97Gly
ENST00000620121.4:c.290T>G	ENSP00000481978.1:p.Val97Gly
NM_015338.5:c.290T>G , LRG_630t1:c.290T>G	NP_056153.2:p.Val97Gly
XM_006723727.2:c.287T>G	XP_006723790.1:p.Val96Gly
XM_006723728.2:c.260T>G	XP_006723791.1:p.Val87Gly
XM_006723730.2:c.206T>G	XP_006723793.1:p.Val69Gly
XM_006723732.2:c.260T>G	XP_006723795.1:p.Val87Gly
XM_011528647.1:c.554T>G	XP_011526949.1:p.Val185Gly
XM_011528648.1:c.551T>G	XP_011526950.1:p.Val184Gly
XM_011528649.1:c.470T>G	XP_011526951.1:p.Val157Gly
XM_011528650.1:c.554T>G	XP_011526952.1:p.Val185Gly
XM_011528651.1:c.269T>G	XP_011526953.1:p.Val90Gly
XM_011528652.1:c.206T>G	XP_011526954.1:p.Val69Gly
NM_001363734.1:c.260T>G	NP_001350663.1:p.Val87Gly
XM_006723727.3:c.287T>G	XP_006723790.1:p.Val96Gly
XM_006723728.3:c.260T>G	XP_006723791.1:p.Val87Gly
XM_006723730.4:c.206T>G	XP_006723793.1:p.Val69Gly
XM_011528648.3:c.551T>G	XP_011526950.1:p.Val184Gly
XM_011528652.2:c.206T>G	XP_011526954.1:p.Val69Gly
XM_017027704.1:c.206T>G	XP_016883193.1:p.Val69Gly
XM_017027705.1:c.206T>G	XP_016883194.1:p.Val69Gly
XM_017027706.1:c.290T>G	XP_016883195.1:p.Val97Gly
NM_015338.6:c.290T>G MANE Select	NP_056153.2:p.Val97Gly