Canonical Allele Identifier: CA9808058

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2415283
• ClinVar RCV Id: RCV003110702
• dbSNP Id: rs142703253
• ExAC: 20:31015993 G / A
• gnomAD v2: 20-31015993-G-A
• gnomAD v3: 20-32428190-G-A
• gnomAD v4: 20-32428190-G-A
• MyVariant Identifiers: chr20:g.31015993G>A (hg19) ; chr20:g.32428190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428190G>A , CM000682.2:g.32428190G>A	GRCh38
NC_000020.10:g.31015993G>A , CM000682.1:g.31015993G>A	GRCh37
NC_000020.9:g.30479654G>A	NCBI36
NG_027868.1:g.74847G>A , LRG_630:g.74847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.315G>A MANE Select	ENSP00000364839.4:p.Thr105=
ENST00000470145.3:n.258G>A
ENST00000643168.1:c.231G>A	ENSP00000495003.1:p.Thr77=
ENST00000644060.1:n.1119G>A
ENST00000644587.1:c.*154G>A	ENSP00000494813.1:n.*154G>A
ENST00000644615.1:n.19G>A
ENST00000645514.1:n.63G>A
ENST00000645688.1:c.231G>A	ENSP00000495488.1:p.Thr77=
ENST00000646985.1:c.285G>A	ENSP00000495053.1:p.Thr95=
ENST00000651418.1:c.315G>A	ENSP00000499150.1:p.Thr105=
ENST00000306058.9:c.300G>A	ENSP00000305119.5:p.Thr100=
ENST00000375687.8:c.315G>A	ENSP00000364839.4:p.Thr105=
ENST00000470145.2:n.258G>A
ENST00000613218.4:c.315G>A	ENSP00000480487.1:p.Thr105=
ENST00000620121.4:c.315G>A	ENSP00000481978.1:p.Thr105=
NM_015338.5:c.315G>A , LRG_630t1:c.315G>A	NP_056153.2:p.Thr105=
XM_006723727.2:c.312G>A	XP_006723790.1:p.Thr104=
XM_006723728.2:c.285G>A	XP_006723791.1:p.Thr95=
XM_006723730.2:c.231G>A	XP_006723793.1:p.Thr77=
XM_006723732.2:c.285G>A	XP_006723795.1:p.Thr95=
XM_011528647.1:c.579G>A	XP_011526949.1:p.Thr193=
XM_011528648.1:c.576G>A	XP_011526950.1:p.Thr192=
XM_011528649.1:c.495G>A	XP_011526951.1:p.Thr165=
XM_011528650.1:c.579G>A	XP_011526952.1:p.Thr193=
XM_011528651.1:c.294G>A	XP_011526953.1:p.Thr98=
XM_011528652.1:c.231G>A	XP_011526954.1:p.Thr77=
NM_001363734.1:c.285G>A	NP_001350663.1:p.Thr95=
XM_006723727.3:c.312G>A	XP_006723790.1:p.Thr104=
XM_006723728.3:c.285G>A	XP_006723791.1:p.Thr95=
XM_006723730.4:c.231G>A	XP_006723793.1:p.Thr77=
XM_011528648.3:c.576G>A	XP_011526950.1:p.Thr192=
XM_011528652.2:c.231G>A	XP_011526954.1:p.Thr77=
XM_017027704.1:c.231G>A	XP_016883193.1:p.Thr77=
XM_017027705.1:c.231G>A	XP_016883194.1:p.Thr77=
XM_017027706.1:c.315G>A	XP_016883195.1:p.Thr105=
NM_015338.6:c.315G>A MANE Select	NP_056153.2:p.Thr105=