Canonical Allele Identifier: CA408564310

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145391342
• MyVariant Identifiers: chr20:g.31024552C>A (hg19) ; chr20:g.32436749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436749C>A , CM000682.2:g.32436749C>A	GRCh38
NC_000020.10:g.31024552C>A , CM000682.1:g.31024552C>A	GRCh37
NC_000020.9:g.30488213C>A	NCBI36
NG_027868.1:g.83406C>A , LRG_630:g.83406C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4037C>A MANE Select	ENSP00000364839.4:p.Ser1346Tyr
ENST00000646985.1:c.3854C>A	ENSP00000495053.1:p.Ser1285Tyr
ENST00000647223.1:n.6390C>A
ENST00000651418.1:c.1870-1681C>A	ENSP00000499150.1:n.1870-1681C>A
ENST00000306058.9:c.4022C>A	ENSP00000305119.5:p.Ser1341Tyr
ENST00000375687.8:c.4037C>A	ENSP00000364839.4:p.Ser1346Tyr
ENST00000613218.4:c.4037C>A	ENSP00000480487.1:p.Ser1346Tyr
ENST00000620121.4:c.4037C>A	ENSP00000481978.1:p.Ser1346Tyr
NM_015338.5:c.4037C>A , LRG_630t1:c.4037C>A	NP_056153.2:p.Ser1346Tyr
XM_006723727.2:c.4034C>A	XP_006723790.1:p.Ser1345Tyr
XM_006723728.2:c.4007C>A	XP_006723791.1:p.Ser1336Tyr
XM_006723730.2:c.3953C>A	XP_006723793.1:p.Ser1318Tyr
XM_006723732.2:c.3854C>A	XP_006723795.1:p.Ser1285Tyr
XM_006723733.1:c.3353C>A	XP_006723796.1:p.Ser1118Tyr
XM_011528647.1:c.4301C>A	XP_011526949.1:p.Ser1434Tyr
XM_011528648.1:c.4298C>A	XP_011526950.1:p.Ser1433Tyr
XM_011528649.1:c.4217C>A	XP_011526951.1:p.Ser1406Tyr
XM_011528650.1:c.4148C>A	XP_011526952.1:p.Ser1383Tyr
XM_011528651.1:c.4016C>A	XP_011526953.1:p.Ser1339Tyr
XM_011528652.1:c.3953C>A	XP_011526954.1:p.Ser1318Tyr
NM_001363734.1:c.3854C>A	NP_001350663.1:p.Ser1285Tyr
XM_006723727.3:c.4034C>A	XP_006723790.1:p.Ser1345Tyr
XM_006723728.3:c.4007C>A	XP_006723791.1:p.Ser1336Tyr
XM_006723730.4:c.3953C>A	XP_006723793.1:p.Ser1318Tyr
XM_011528648.3:c.4298C>A	XP_011526950.1:p.Ser1433Tyr
XM_011528652.2:c.3953C>A	XP_011526954.1:p.Ser1318Tyr
XM_017027704.1:c.3953C>A	XP_016883193.1:p.Ser1318Tyr
XM_017027705.1:c.3953C>A	XP_016883194.1:p.Ser1318Tyr
XM_017027706.1:c.3884C>A	XP_016883195.1:p.Ser1295Tyr
NM_015338.6:c.4037C>A MANE Select	NP_056153.2:p.Ser1346Tyr