Canonical Allele Identifier: CA408564200

Gene: ASXL1

Linked Data

• dbSNP Id: rs1193631121
• gnomAD v2: 20-31024500-A-T
• gnomAD v4: 20-32436697-A-T
• MyVariant Identifiers: chr20:g.31024500A>T (hg19) ; chr20:g.32436697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436697A>T , CM000682.2:g.32436697A>T	GRCh38
NC_000020.10:g.31024500A>T , CM000682.1:g.31024500A>T	GRCh37
NC_000020.9:g.30488161A>T	NCBI36
NG_027868.1:g.83354A>T , LRG_630:g.83354A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3985A>T MANE Select	ENSP00000364839.4:p.Ile1329Phe
ENST00000646985.1:c.3802A>T	ENSP00000495053.1:p.Ile1268Phe
ENST00000647223.1:n.6338A>T
ENST00000651418.1:c.1870-1733A>T	ENSP00000499150.1:n.1870-1733A>T
ENST00000306058.9:c.3970A>T	ENSP00000305119.5:p.Ile1324Phe
ENST00000375687.8:c.3985A>T	ENSP00000364839.4:p.Ile1329Phe
ENST00000613218.4:c.3985A>T	ENSP00000480487.1:p.Ile1329Phe
ENST00000620121.4:c.3985A>T	ENSP00000481978.1:p.Ile1329Phe
NM_015338.5:c.3985A>T , LRG_630t1:c.3985A>T	NP_056153.2:p.Ile1329Phe
XM_006723727.2:c.3982A>T	XP_006723790.1:p.Ile1328Phe
XM_006723728.2:c.3955A>T	XP_006723791.1:p.Ile1319Phe
XM_006723730.2:c.3901A>T	XP_006723793.1:p.Ile1301Phe
XM_006723732.2:c.3802A>T	XP_006723795.1:p.Ile1268Phe
XM_006723733.1:c.3301A>T	XP_006723796.1:p.Ile1101Phe
XM_011528647.1:c.4249A>T	XP_011526949.1:p.Ile1417Phe
XM_011528648.1:c.4246A>T	XP_011526950.1:p.Ile1416Phe
XM_011528649.1:c.4165A>T	XP_011526951.1:p.Ile1389Phe
XM_011528650.1:c.4096A>T	XP_011526952.1:p.Ile1366Phe
XM_011528651.1:c.3964A>T	XP_011526953.1:p.Ile1322Phe
XM_011528652.1:c.3901A>T	XP_011526954.1:p.Ile1301Phe
NM_001363734.1:c.3802A>T	NP_001350663.1:p.Ile1268Phe
XM_006723727.3:c.3982A>T	XP_006723790.1:p.Ile1328Phe
XM_006723728.3:c.3955A>T	XP_006723791.1:p.Ile1319Phe
XM_006723730.4:c.3901A>T	XP_006723793.1:p.Ile1301Phe
XM_011528648.3:c.4246A>T	XP_011526950.1:p.Ile1416Phe
XM_011528652.2:c.3901A>T	XP_011526954.1:p.Ile1301Phe
XM_017027704.1:c.3901A>T	XP_016883193.1:p.Ile1301Phe
XM_017027705.1:c.3901A>T	XP_016883194.1:p.Ile1301Phe
XM_017027706.1:c.3832A>T	XP_016883195.1:p.Ile1278Phe
NM_015338.6:c.3985A>T MANE Select	NP_056153.2:p.Ile1329Phe