Canonical Allele Identifier: CA408551565

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32428206-T-G
• MyVariant Identifiers: chr20:g.31016009T>G (hg19) ; chr20:g.32428206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428206T>G , CM000682.2:g.32428206T>G	GRCh38
NC_000020.10:g.31016009T>G , CM000682.1:g.31016009T>G	GRCh37
NC_000020.9:g.30479670T>G	NCBI36
NG_027868.1:g.74863T>G , LRG_630:g.74863T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.331T>G MANE Select	ENSP00000364839.4:p.Cys111Gly
ENST00000470145.3:n.274T>G
ENST00000643168.1:c.247T>G	ENSP00000495003.1:p.Cys83Gly
ENST00000644060.1:n.1135T>G
ENST00000644587.1:c.*170T>G	ENSP00000494813.1:n.*170T>G
ENST00000644615.1:n.35T>G
ENST00000645514.1:n.79T>G
ENST00000646985.1:c.301T>G	ENSP00000495053.1:p.Cys101Gly
ENST00000651418.1:c.331T>G	ENSP00000499150.1:p.Cys111Gly
ENST00000306058.9:c.316T>G	ENSP00000305119.5:p.Cys106Gly
ENST00000375687.8:c.331T>G	ENSP00000364839.4:p.Cys111Gly
ENST00000470145.2:n.274T>G
ENST00000613218.4:c.331T>G	ENSP00000480487.1:p.Cys111Gly
ENST00000620121.4:c.331T>G	ENSP00000481978.1:p.Cys111Gly
NM_015338.5:c.331T>G , LRG_630t1:c.331T>G	NP_056153.2:p.Cys111Gly
XM_006723727.2:c.328T>G	XP_006723790.1:p.Cys110Gly
XM_006723728.2:c.301T>G	XP_006723791.1:p.Cys101Gly
XM_006723730.2:c.247T>G	XP_006723793.1:p.Cys83Gly
XM_006723732.2:c.301T>G	XP_006723795.1:p.Cys101Gly
XM_011528647.1:c.595T>G	XP_011526949.1:p.Cys199Gly
XM_011528648.1:c.592T>G	XP_011526950.1:p.Cys198Gly
XM_011528649.1:c.511T>G	XP_011526951.1:p.Cys171Gly
XM_011528650.1:c.595T>G	XP_011526952.1:p.Cys199Gly
XM_011528651.1:c.310T>G	XP_011526953.1:p.Cys104Gly
XM_011528652.1:c.247T>G	XP_011526954.1:p.Cys83Gly
NM_001363734.1:c.301T>G	NP_001350663.1:p.Cys101Gly
XM_006723727.3:c.328T>G	XP_006723790.1:p.Cys110Gly
XM_006723728.3:c.301T>G	XP_006723791.1:p.Cys101Gly
XM_006723730.4:c.247T>G	XP_006723793.1:p.Cys83Gly
XM_011528648.3:c.592T>G	XP_011526950.1:p.Cys198Gly
XM_011528652.2:c.247T>G	XP_011526954.1:p.Cys83Gly
XM_017027704.1:c.247T>G	XP_016883193.1:p.Cys83Gly
XM_017027705.1:c.247T>G	XP_016883194.1:p.Cys83Gly
XM_017027706.1:c.331T>G	XP_016883195.1:p.Cys111Gly
NM_015338.6:c.331T>G MANE Select	NP_056153.2:p.Cys111Gly