Canonical Allele Identifier: CA408564436

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024612G>T (hg19) ; chr20:g.32436809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436809G>T , CM000682.2:g.32436809G>T	GRCh38
NC_000020.10:g.31024612G>T , CM000682.1:g.31024612G>T	GRCh37
NC_000020.9:g.30488273G>T	NCBI36
NG_027868.1:g.83466G>T , LRG_630:g.83466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4097G>T MANE Select	ENSP00000364839.4:p.Ser1366Ile
ENST00000646985.1:c.3914G>T	ENSP00000495053.1:p.Ser1305Ile
ENST00000647223.1:n.6450G>T
ENST00000651418.1:c.1870-1621G>T	ENSP00000499150.1:n.1870-1621G>T
ENST00000306058.9:c.4082G>T	ENSP00000305119.5:p.Ser1361Ile
ENST00000375687.8:c.4097G>T	ENSP00000364839.4:p.Ser1366Ile
ENST00000613218.4:c.4097G>T	ENSP00000480487.1:p.Ser1366Ile
ENST00000620121.4:c.4097G>T	ENSP00000481978.1:p.Ser1366Ile
NM_015338.5:c.4097G>T , LRG_630t1:c.4097G>T	NP_056153.2:p.Ser1366Ile
XM_006723727.2:c.4094G>T	XP_006723790.1:p.Ser1365Ile
XM_006723728.2:c.4067G>T	XP_006723791.1:p.Ser1356Ile
XM_006723730.2:c.4013G>T	XP_006723793.1:p.Ser1338Ile
XM_006723732.2:c.3914G>T	XP_006723795.1:p.Ser1305Ile
XM_006723733.1:c.3413G>T	XP_006723796.1:p.Ser1138Ile
XM_011528647.1:c.4361G>T	XP_011526949.1:p.Ser1454Ile
XM_011528648.1:c.4358G>T	XP_011526950.1:p.Ser1453Ile
XM_011528649.1:c.4277G>T	XP_011526951.1:p.Ser1426Ile
XM_011528650.1:c.4208G>T	XP_011526952.1:p.Ser1403Ile
XM_011528651.1:c.4076G>T	XP_011526953.1:p.Ser1359Ile
XM_011528652.1:c.4013G>T	XP_011526954.1:p.Ser1338Ile
NM_001363734.1:c.3914G>T	NP_001350663.1:p.Ser1305Ile
XM_006723727.3:c.4094G>T	XP_006723790.1:p.Ser1365Ile
XM_006723728.3:c.4067G>T	XP_006723791.1:p.Ser1356Ile
XM_006723730.4:c.4013G>T	XP_006723793.1:p.Ser1338Ile
XM_011528648.3:c.4358G>T	XP_011526950.1:p.Ser1453Ile
XM_011528652.2:c.4013G>T	XP_011526954.1:p.Ser1338Ile
XM_017027704.1:c.4013G>T	XP_016883193.1:p.Ser1338Ile
XM_017027705.1:c.4013G>T	XP_016883194.1:p.Ser1338Ile
XM_017027706.1:c.3944G>T	XP_016883195.1:p.Ser1315Ile
NM_015338.6:c.4097G>T MANE Select	NP_056153.2:p.Ser1366Ile