Canonical Allele Identifier: CA408564108

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436650-C-A
• MyVariant Identifiers: chr20:g.31024453C>A (hg19) ; chr20:g.32436650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436650C>A , CM000682.2:g.32436650C>A	GRCh38
NC_000020.10:g.31024453C>A , CM000682.1:g.31024453C>A	GRCh37
NC_000020.9:g.30488114C>A	NCBI36
NG_027868.1:g.83307C>A , LRG_630:g.83307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3938C>A MANE Select	ENSP00000364839.4:p.Thr1313Asn
ENST00000646985.1:c.3755C>A	ENSP00000495053.1:p.Thr1252Asn
ENST00000647223.1:n.6291C>A
ENST00000651418.1:c.1870-1780C>A	ENSP00000499150.1:n.1870-1780C>A
ENST00000306058.9:c.3923C>A	ENSP00000305119.5:p.Thr1308Asn
ENST00000375687.8:c.3938C>A	ENSP00000364839.4:p.Thr1313Asn
ENST00000613218.4:c.3938C>A	ENSP00000480487.1:p.Thr1313Asn
ENST00000620121.4:c.3938C>A	ENSP00000481978.1:p.Thr1313Asn
NM_015338.5:c.3938C>A , LRG_630t1:c.3938C>A	NP_056153.2:p.Thr1313Asn
XM_006723727.2:c.3935C>A	XP_006723790.1:p.Thr1312Asn
XM_006723728.2:c.3908C>A	XP_006723791.1:p.Thr1303Asn
XM_006723730.2:c.3854C>A	XP_006723793.1:p.Thr1285Asn
XM_006723732.2:c.3755C>A	XP_006723795.1:p.Thr1252Asn
XM_006723733.1:c.3254C>A	XP_006723796.1:p.Thr1085Asn
XM_011528647.1:c.4202C>A	XP_011526949.1:p.Thr1401Asn
XM_011528648.1:c.4199C>A	XP_011526950.1:p.Thr1400Asn
XM_011528649.1:c.4118C>A	XP_011526951.1:p.Thr1373Asn
XM_011528650.1:c.4049C>A	XP_011526952.1:p.Thr1350Asn
XM_011528651.1:c.3917C>A	XP_011526953.1:p.Thr1306Asn
XM_011528652.1:c.3854C>A	XP_011526954.1:p.Thr1285Asn
NM_001363734.1:c.3755C>A	NP_001350663.1:p.Thr1252Asn
XM_006723727.3:c.3935C>A	XP_006723790.1:p.Thr1312Asn
XM_006723728.3:c.3908C>A	XP_006723791.1:p.Thr1303Asn
XM_006723730.4:c.3854C>A	XP_006723793.1:p.Thr1285Asn
XM_011528648.3:c.4199C>A	XP_011526950.1:p.Thr1400Asn
XM_011528652.2:c.3854C>A	XP_011526954.1:p.Thr1285Asn
XM_017027704.1:c.3854C>A	XP_016883193.1:p.Thr1285Asn
XM_017027705.1:c.3854C>A	XP_016883194.1:p.Thr1285Asn
XM_017027706.1:c.3785C>A	XP_016883195.1:p.Thr1262Asn
NM_015338.6:c.3938C>A MANE Select	NP_056153.2:p.Thr1313Asn