Canonical Allele Identifier: CA408563985

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436592-C-A
• MyVariant Identifiers: chr20:g.31024395C>A (hg19) ; chr20:g.32436592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436592C>A , CM000682.2:g.32436592C>A	GRCh38
NC_000020.10:g.31024395C>A , CM000682.1:g.31024395C>A	GRCh37
NC_000020.9:g.30488056C>A	NCBI36
NG_027868.1:g.83249C>A , LRG_630:g.83249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3880C>A MANE Select	ENSP00000364839.4:p.Gln1294Lys
ENST00000646985.1:c.3697C>A	ENSP00000495053.1:p.Gln1233Lys
ENST00000647223.1:n.6233C>A
ENST00000651418.1:c.1870-1838C>A	ENSP00000499150.1:n.1870-1838C>A
ENST00000306058.9:c.3865C>A	ENSP00000305119.5:p.Gln1289Lys
ENST00000375687.8:c.3880C>A	ENSP00000364839.4:p.Gln1294Lys
ENST00000613218.4:c.3880C>A	ENSP00000480487.1:p.Gln1294Lys
ENST00000620121.4:c.3880C>A	ENSP00000481978.1:p.Gln1294Lys
NM_015338.5:c.3880C>A , LRG_630t1:c.3880C>A	NP_056153.2:p.Gln1294Lys
XM_006723727.2:c.3877C>A	XP_006723790.1:p.Gln1293Lys
XM_006723728.2:c.3850C>A	XP_006723791.1:p.Gln1284Lys
XM_006723730.2:c.3796C>A	XP_006723793.1:p.Gln1266Lys
XM_006723732.2:c.3697C>A	XP_006723795.1:p.Gln1233Lys
XM_006723733.1:c.3196C>A	XP_006723796.1:p.Gln1066Lys
XM_011528647.1:c.4144C>A	XP_011526949.1:p.Gln1382Lys
XM_011528648.1:c.4141C>A	XP_011526950.1:p.Gln1381Lys
XM_011528649.1:c.4060C>A	XP_011526951.1:p.Gln1354Lys
XM_011528650.1:c.3991C>A	XP_011526952.1:p.Gln1331Lys
XM_011528651.1:c.3859C>A	XP_011526953.1:p.Gln1287Lys
XM_011528652.1:c.3796C>A	XP_011526954.1:p.Gln1266Lys
NM_001363734.1:c.3697C>A	NP_001350663.1:p.Gln1233Lys
XM_006723727.3:c.3877C>A	XP_006723790.1:p.Gln1293Lys
XM_006723728.3:c.3850C>A	XP_006723791.1:p.Gln1284Lys
XM_006723730.4:c.3796C>A	XP_006723793.1:p.Gln1266Lys
XM_011528648.3:c.4141C>A	XP_011526950.1:p.Gln1381Lys
XM_011528652.2:c.3796C>A	XP_011526954.1:p.Gln1266Lys
XM_017027704.1:c.3796C>A	XP_016883193.1:p.Gln1266Lys
XM_017027705.1:c.3796C>A	XP_016883194.1:p.Gln1266Lys
XM_017027706.1:c.3727C>A	XP_016883195.1:p.Gln1243Lys
NM_015338.6:c.3880C>A MANE Select	NP_056153.2:p.Gln1294Lys