Canonical Allele Identifier: CA408564333

Gene: ASXL1

Linked Data

• dbSNP Id: rs1254556412
• gnomAD v2: 20-31024565-G-T
• gnomAD v3: 20-32436762-G-T
• gnomAD v4: 20-32436762-G-T
• MyVariant Identifiers: chr20:g.31024565G>T (hg19) ; chr20:g.32436762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436762G>T , CM000682.2:g.32436762G>T	GRCh38
NC_000020.10:g.31024565G>T , CM000682.1:g.31024565G>T	GRCh37
NC_000020.9:g.30488226G>T	NCBI36
NG_027868.1:g.83419G>T , LRG_630:g.83419G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4050G>T MANE Select	ENSP00000364839.4:p.Gln1350His
ENST00000646985.1:c.3867G>T	ENSP00000495053.1:p.Gln1289His
ENST00000647223.1:n.6403G>T
ENST00000651418.1:c.1870-1668G>T	ENSP00000499150.1:n.1870-1668G>T
ENST00000306058.9:c.4035G>T	ENSP00000305119.5:p.Gln1345His
ENST00000375687.8:c.4050G>T	ENSP00000364839.4:p.Gln1350His
ENST00000613218.4:c.4050G>T	ENSP00000480487.1:p.Gln1350His
ENST00000620121.4:c.4050G>T	ENSP00000481978.1:p.Gln1350His
NM_015338.5:c.4050G>T , LRG_630t1:c.4050G>T	NP_056153.2:p.Gln1350His
XM_006723727.2:c.4047G>T	XP_006723790.1:p.Gln1349His
XM_006723728.2:c.4020G>T	XP_006723791.1:p.Gln1340His
XM_006723730.2:c.3966G>T	XP_006723793.1:p.Gln1322His
XM_006723732.2:c.3867G>T	XP_006723795.1:p.Gln1289His
XM_006723733.1:c.3366G>T	XP_006723796.1:p.Gln1122His
XM_011528647.1:c.4314G>T	XP_011526949.1:p.Gln1438His
XM_011528648.1:c.4311G>T	XP_011526950.1:p.Gln1437His
XM_011528649.1:c.4230G>T	XP_011526951.1:p.Gln1410His
XM_011528650.1:c.4161G>T	XP_011526952.1:p.Gln1387His
XM_011528651.1:c.4029G>T	XP_011526953.1:p.Gln1343His
XM_011528652.1:c.3966G>T	XP_011526954.1:p.Gln1322His
NM_001363734.1:c.3867G>T	NP_001350663.1:p.Gln1289His
XM_006723727.3:c.4047G>T	XP_006723790.1:p.Gln1349His
XM_006723728.3:c.4020G>T	XP_006723791.1:p.Gln1340His
XM_006723730.4:c.3966G>T	XP_006723793.1:p.Gln1322His
XM_011528648.3:c.4311G>T	XP_011526950.1:p.Gln1437His
XM_011528652.2:c.3966G>T	XP_011526954.1:p.Gln1322His
XM_017027704.1:c.3966G>T	XP_016883193.1:p.Gln1322His
XM_017027705.1:c.3966G>T	XP_016883194.1:p.Gln1322His
XM_017027706.1:c.3897G>T	XP_016883195.1:p.Gln1299His
NM_015338.6:c.4050G>T MANE Select	NP_056153.2:p.Gln1350His