Canonical Allele Identifier: CA408564110

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1429393
• ClinVar RCV Id: RCV001938913
• dbSNP Id: rs2145389801
• gnomAD v4: 20-32436650-C-T
• MyVariant Identifiers: chr20:g.31024453C>T (hg19) ; chr20:g.32436650C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3938C>T MANE Select	ENSP00000364839.4:p.Thr1313Ile
ENST00000646985.1:c.3755C>T	ENSP00000495053.1:p.Thr1252Ile
ENST00000647223.1:n.6291C>T
ENST00000651418.1:c.1870-1780C>T	ENSP00000499150.1:n.1870-1780C>T
ENST00000306058.9:c.3923C>T	ENSP00000305119.5:p.Thr1308Ile
ENST00000375687.8:c.3938C>T	ENSP00000364839.4:p.Thr1313Ile
ENST00000613218.4:c.3938C>T	ENSP00000480487.1:p.Thr1313Ile
ENST00000620121.4:c.3938C>T	ENSP00000481978.1:p.Thr1313Ile
NM_015338.5:c.3938C>T , LRG_630t1:c.3938C>T	NP_056153.2:p.Thr1313Ile
XM_006723727.2:c.3935C>T	XP_006723790.1:p.Thr1312Ile
XM_006723728.2:c.3908C>T	XP_006723791.1:p.Thr1303Ile
XM_006723730.2:c.3854C>T	XP_006723793.1:p.Thr1285Ile
XM_006723732.2:c.3755C>T	XP_006723795.1:p.Thr1252Ile
XM_006723733.1:c.3254C>T	XP_006723796.1:p.Thr1085Ile
XM_011528647.1:c.4202C>T	XP_011526949.1:p.Thr1401Ile
XM_011528648.1:c.4199C>T	XP_011526950.1:p.Thr1400Ile
XM_011528649.1:c.4118C>T	XP_011526951.1:p.Thr1373Ile
XM_011528650.1:c.4049C>T	XP_011526952.1:p.Thr1350Ile
XM_011528651.1:c.3917C>T	XP_011526953.1:p.Thr1306Ile
XM_011528652.1:c.3854C>T	XP_011526954.1:p.Thr1285Ile
NM_001363734.1:c.3755C>T	NP_001350663.1:p.Thr1252Ile
XM_006723727.3:c.3935C>T	XP_006723790.1:p.Thr1312Ile
XM_006723728.3:c.3908C>T	XP_006723791.1:p.Thr1303Ile
XM_006723730.4:c.3854C>T	XP_006723793.1:p.Thr1285Ile
XM_011528648.3:c.4199C>T	XP_011526950.1:p.Thr1400Ile
XM_011528652.2:c.3854C>T	XP_011526954.1:p.Thr1285Ile
XM_017027704.1:c.3854C>T	XP_016883193.1:p.Thr1285Ile
XM_017027705.1:c.3854C>T	XP_016883194.1:p.Thr1285Ile
XM_017027706.1:c.3785C>T	XP_016883195.1:p.Thr1262Ile
NM_015338.6:c.3938C>T MANE Select	NP_056153.2:p.Thr1313Ile