Canonical Allele Identifier: CA408551402

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31015967G>T (hg19) ; chr20:g.32428164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428164G>T , CM000682.2:g.32428164G>T	GRCh38
NC_000020.10:g.31015967G>T , CM000682.1:g.31015967G>T	GRCh37
NC_000020.9:g.30479628G>T	NCBI36
NG_027868.1:g.74821G>T , LRG_630:g.74821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.289G>T MANE Select	ENSP00000364839.4:p.Val97Leu
ENST00000470145.3:n.232G>T
ENST00000643168.1:c.205G>T	ENSP00000495003.1:p.Val69Leu
ENST00000644060.1:n.1093G>T
ENST00000644587.1:c.*128G>T	ENSP00000494813.1:n.*128G>T
ENST00000645514.1:n.37G>T
ENST00000645688.1:c.205G>T	ENSP00000495488.1:p.Val69Leu
ENST00000646985.1:c.259G>T	ENSP00000495053.1:p.Val87Leu
ENST00000651418.1:c.289G>T	ENSP00000499150.1:p.Val97Leu
ENST00000306058.9:c.274G>T	ENSP00000305119.5:p.Val92Leu
ENST00000375687.8:c.289G>T	ENSP00000364839.4:p.Val97Leu
ENST00000470145.2:n.232G>T
ENST00000613218.4:c.289G>T	ENSP00000480487.1:p.Val97Leu
ENST00000620121.4:c.289G>T	ENSP00000481978.1:p.Val97Leu
NM_015338.5:c.289G>T , LRG_630t1:c.289G>T	NP_056153.2:p.Val97Leu
XM_006723727.2:c.286G>T	XP_006723790.1:p.Val96Leu
XM_006723728.2:c.259G>T	XP_006723791.1:p.Val87Leu
XM_006723730.2:c.205G>T	XP_006723793.1:p.Val69Leu
XM_006723732.2:c.259G>T	XP_006723795.1:p.Val87Leu
XM_011528647.1:c.553G>T	XP_011526949.1:p.Val185Leu
XM_011528648.1:c.550G>T	XP_011526950.1:p.Val184Leu
XM_011528649.1:c.469G>T	XP_011526951.1:p.Val157Leu
XM_011528650.1:c.553G>T	XP_011526952.1:p.Val185Leu
XM_011528651.1:c.268G>T	XP_011526953.1:p.Val90Leu
XM_011528652.1:c.205G>T	XP_011526954.1:p.Val69Leu
NM_001363734.1:c.259G>T	NP_001350663.1:p.Val87Leu
XM_006723727.3:c.286G>T	XP_006723790.1:p.Val96Leu
XM_006723728.3:c.259G>T	XP_006723791.1:p.Val87Leu
XM_006723730.4:c.205G>T	XP_006723793.1:p.Val69Leu
XM_011528648.3:c.550G>T	XP_011526950.1:p.Val184Leu
XM_011528652.2:c.205G>T	XP_011526954.1:p.Val69Leu
XM_017027704.1:c.205G>T	XP_016883193.1:p.Val69Leu
XM_017027705.1:c.205G>T	XP_016883194.1:p.Val69Leu
XM_017027706.1:c.289G>T	XP_016883195.1:p.Val97Leu
NM_015338.6:c.289G>T MANE Select	NP_056153.2:p.Val97Leu