Canonical Allele Identifier: CA408551813

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32428345-T-G
• MyVariant Identifiers: chr20:g.31016148T>G (hg19) ; chr20:g.32428345T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428345T>G , CM000682.2:g.32428345T>G	GRCh38
NC_000020.10:g.31016148T>G , CM000682.1:g.31016148T>G	GRCh37
NC_000020.9:g.30479809T>G	NCBI36
NG_027868.1:g.75002T>G , LRG_630:g.75002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.394T>G MANE Select	ENSP00000364839.4:p.Ser132Ala
ENST00000470145.3:n.413T>G
ENST00000643168.1:c.310T>G	ENSP00000495003.1:p.Ser104Ala
ENST00000644060.1:n.1198T>G
ENST00000644587.1:c.*233T>G	ENSP00000494813.1:n.*233T>G
ENST00000644615.1:n.98T>G
ENST00000645514.1:n.218T>G
ENST00000646985.1:c.364T>G	ENSP00000495053.1:p.Ser122Ala
ENST00000651418.1:c.394T>G	ENSP00000499150.1:p.Ser132Ala
ENST00000306058.9:c.379T>G	ENSP00000305119.5:p.Ser127Ala
ENST00000375687.8:c.394T>G	ENSP00000364839.4:p.Ser132Ala
ENST00000470145.2:n.413T>G
ENST00000613218.4:c.394T>G	ENSP00000480487.1:p.Ser132Ala
ENST00000620121.4:c.394T>G	ENSP00000481978.1:p.Ser132Ala
NM_015338.5:c.394T>G , LRG_630t1:c.394T>G	NP_056153.2:p.Ser132Ala
XM_006723727.2:c.391T>G	XP_006723790.1:p.Ser131Ala
XM_006723728.2:c.364T>G	XP_006723791.1:p.Ser122Ala
XM_006723730.2:c.310T>G	XP_006723793.1:p.Ser104Ala
XM_006723732.2:c.364T>G	XP_006723795.1:p.Ser122Ala
XM_011528647.1:c.658T>G	XP_011526949.1:p.Ser220Ala
XM_011528648.1:c.655T>G	XP_011526950.1:p.Ser219Ala
XM_011528649.1:c.574T>G	XP_011526951.1:p.Ser192Ala
XM_011528650.1:c.658T>G	XP_011526952.1:p.Ser220Ala
XM_011528651.1:c.373T>G	XP_011526953.1:p.Ser125Ala
XM_011528652.1:c.310T>G	XP_011526954.1:p.Ser104Ala
NM_001363734.1:c.364T>G	NP_001350663.1:p.Ser122Ala
XM_006723727.3:c.391T>G	XP_006723790.1:p.Ser131Ala
XM_006723728.3:c.364T>G	XP_006723791.1:p.Ser122Ala
XM_006723730.4:c.310T>G	XP_006723793.1:p.Ser104Ala
XM_011528648.3:c.655T>G	XP_011526950.1:p.Ser219Ala
XM_011528652.2:c.310T>G	XP_011526954.1:p.Ser104Ala
XM_017027704.1:c.310T>G	XP_016883193.1:p.Ser104Ala
XM_017027705.1:c.310T>G	XP_016883194.1:p.Ser104Ala
XM_017027706.1:c.394T>G	XP_016883195.1:p.Ser132Ala
NM_015338.6:c.394T>G MANE Select	NP_056153.2:p.Ser132Ala