Canonical Allele Identifier: CA313926370

Gene: ASXL1

Linked Data

• dbSNP Id: rs749011329
• gnomAD v4: 20-32436699-C-G
• MyVariant Identifiers: chr20:g.31024502C>G (hg19) ; chr20:g.32436699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436699C>G , CM000682.2:g.32436699C>G	GRCh38
NC_000020.10:g.31024502C>G , CM000682.1:g.31024502C>G	GRCh37
NC_000020.9:g.30488163C>G	NCBI36
NG_027868.1:g.83356C>G , LRG_630:g.83356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3987C>G MANE Select	ENSP00000364839.4:p.Ile1329Met
ENST00000646985.1:c.3804C>G	ENSP00000495053.1:p.Ile1268Met
ENST00000647223.1:n.6340C>G
ENST00000651418.1:c.1870-1731C>G	ENSP00000499150.1:n.1870-1731C>G
ENST00000306058.9:c.3972C>G	ENSP00000305119.5:p.Ile1324Met
ENST00000375687.8:c.3987C>G	ENSP00000364839.4:p.Ile1329Met
ENST00000613218.4:c.3987C>G	ENSP00000480487.1:p.Ile1329Met
ENST00000620121.4:c.3987C>G	ENSP00000481978.1:p.Ile1329Met
NM_015338.5:c.3987C>G , LRG_630t1:c.3987C>G	NP_056153.2:p.Ile1329Met
XM_006723727.2:c.3984C>G	XP_006723790.1:p.Ile1328Met
XM_006723728.2:c.3957C>G	XP_006723791.1:p.Ile1319Met
XM_006723730.2:c.3903C>G	XP_006723793.1:p.Ile1301Met
XM_006723732.2:c.3804C>G	XP_006723795.1:p.Ile1268Met
XM_006723733.1:c.3303C>G	XP_006723796.1:p.Ile1101Met
XM_011528647.1:c.4251C>G	XP_011526949.1:p.Ile1417Met
XM_011528648.1:c.4248C>G	XP_011526950.1:p.Ile1416Met
XM_011528649.1:c.4167C>G	XP_011526951.1:p.Ile1389Met
XM_011528650.1:c.4098C>G	XP_011526952.1:p.Ile1366Met
XM_011528651.1:c.3966C>G	XP_011526953.1:p.Ile1322Met
XM_011528652.1:c.3903C>G	XP_011526954.1:p.Ile1301Met
NM_001363734.1:c.3804C>G	NP_001350663.1:p.Ile1268Met
XM_006723727.3:c.3984C>G	XP_006723790.1:p.Ile1328Met
XM_006723728.3:c.3957C>G	XP_006723791.1:p.Ile1319Met
XM_006723730.4:c.3903C>G	XP_006723793.1:p.Ile1301Met
XM_011528648.3:c.4248C>G	XP_011526950.1:p.Ile1416Met
XM_011528652.2:c.3903C>G	XP_011526954.1:p.Ile1301Met
XM_017027704.1:c.3903C>G	XP_016883193.1:p.Ile1301Met
XM_017027705.1:c.3903C>G	XP_016883194.1:p.Ile1301Met
XM_017027706.1:c.3834C>G	XP_016883195.1:p.Ile1278Met
NM_015338.6:c.3987C>G MANE Select	NP_056153.2:p.Ile1329Met