Canonical Allele Identifier: CA408564302

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436747-G-A
• MyVariant Identifiers: chr20:g.31024550G>A (hg19) ; chr20:g.32436747G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436747G>A , CM000682.2:g.32436747G>A	GRCh38
NC_000020.10:g.31024550G>A , CM000682.1:g.31024550G>A	GRCh37
NC_000020.9:g.30488211G>A	NCBI36
NG_027868.1:g.83404G>A , LRG_630:g.83404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4035G>A MANE Select	ENSP00000364839.4:p.Met1345Ile
ENST00000646985.1:c.3852G>A	ENSP00000495053.1:p.Met1284Ile
ENST00000647223.1:n.6388G>A
ENST00000651418.1:c.1870-1683G>A	ENSP00000499150.1:n.1870-1683G>A
ENST00000306058.9:c.4020G>A	ENSP00000305119.5:p.Met1340Ile
ENST00000375687.8:c.4035G>A	ENSP00000364839.4:p.Met1345Ile
ENST00000613218.4:c.4035G>A	ENSP00000480487.1:p.Met1345Ile
ENST00000620121.4:c.4035G>A	ENSP00000481978.1:p.Met1345Ile
NM_015338.5:c.4035G>A , LRG_630t1:c.4035G>A	NP_056153.2:p.Met1345Ile
XM_006723727.2:c.4032G>A	XP_006723790.1:p.Met1344Ile
XM_006723728.2:c.4005G>A	XP_006723791.1:p.Met1335Ile
XM_006723730.2:c.3951G>A	XP_006723793.1:p.Met1317Ile
XM_006723732.2:c.3852G>A	XP_006723795.1:p.Met1284Ile
XM_006723733.1:c.3351G>A	XP_006723796.1:p.Met1117Ile
XM_011528647.1:c.4299G>A	XP_011526949.1:p.Met1433Ile
XM_011528648.1:c.4296G>A	XP_011526950.1:p.Met1432Ile
XM_011528649.1:c.4215G>A	XP_011526951.1:p.Met1405Ile
XM_011528650.1:c.4146G>A	XP_011526952.1:p.Met1382Ile
XM_011528651.1:c.4014G>A	XP_011526953.1:p.Met1338Ile
XM_011528652.1:c.3951G>A	XP_011526954.1:p.Met1317Ile
NM_001363734.1:c.3852G>A	NP_001350663.1:p.Met1284Ile
XM_006723727.3:c.4032G>A	XP_006723790.1:p.Met1344Ile
XM_006723728.3:c.4005G>A	XP_006723791.1:p.Met1335Ile
XM_006723730.4:c.3951G>A	XP_006723793.1:p.Met1317Ile
XM_011528648.3:c.4296G>A	XP_011526950.1:p.Met1432Ile
XM_011528652.2:c.3951G>A	XP_011526954.1:p.Met1317Ile
XM_017027704.1:c.3951G>A	XP_016883193.1:p.Met1317Ile
XM_017027705.1:c.3951G>A	XP_016883194.1:p.Met1317Ile
XM_017027706.1:c.3882G>A	XP_016883195.1:p.Met1294Ile
NM_015338.6:c.4035G>A MANE Select	NP_056153.2:p.Met1345Ile