Canonical Allele Identifier: CA408564118

Gene: ASXL1

Linked Data

• gnomAD v4: 20-32436655-C-T
• MyVariant Identifiers: chr20:g.31024458C>T (hg19) ; chr20:g.32436655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436655C>T , CM000682.2:g.32436655C>T	GRCh38
NC_000020.10:g.31024458C>T , CM000682.1:g.31024458C>T	GRCh37
NC_000020.9:g.30488119C>T	NCBI36
NG_027868.1:g.83312C>T , LRG_630:g.83312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3943C>T MANE Select	ENSP00000364839.4:p.Gln1315Ter
ENST00000646985.1:c.3760C>T	ENSP00000495053.1:p.Gln1254Ter
ENST00000647223.1:n.6296C>T
ENST00000651418.1:c.1870-1775C>T	ENSP00000499150.1:n.1870-1775C>T
ENST00000306058.9:c.3928C>T	ENSP00000305119.5:p.Gln1310Ter
ENST00000375687.8:c.3943C>T	ENSP00000364839.4:p.Gln1315Ter
ENST00000613218.4:c.3943C>T	ENSP00000480487.1:p.Gln1315Ter
ENST00000620121.4:c.3943C>T	ENSP00000481978.1:p.Gln1315Ter
NM_015338.5:c.3943C>T , LRG_630t1:c.3943C>T	NP_056153.2:p.Gln1315Ter
XM_006723727.2:c.3940C>T	XP_006723790.1:p.Gln1314Ter
XM_006723728.2:c.3913C>T	XP_006723791.1:p.Gln1305Ter
XM_006723730.2:c.3859C>T	XP_006723793.1:p.Gln1287Ter
XM_006723732.2:c.3760C>T	XP_006723795.1:p.Gln1254Ter
XM_006723733.1:c.3259C>T	XP_006723796.1:p.Gln1087Ter
XM_011528647.1:c.4207C>T	XP_011526949.1:p.Gln1403Ter
XM_011528648.1:c.4204C>T	XP_011526950.1:p.Gln1402Ter
XM_011528649.1:c.4123C>T	XP_011526951.1:p.Gln1375Ter
XM_011528650.1:c.4054C>T	XP_011526952.1:p.Gln1352Ter
XM_011528651.1:c.3922C>T	XP_011526953.1:p.Gln1308Ter
XM_011528652.1:c.3859C>T	XP_011526954.1:p.Gln1287Ter
NM_001363734.1:c.3760C>T	NP_001350663.1:p.Gln1254Ter
XM_006723727.3:c.3940C>T	XP_006723790.1:p.Gln1314Ter
XM_006723728.3:c.3913C>T	XP_006723791.1:p.Gln1305Ter
XM_006723730.4:c.3859C>T	XP_006723793.1:p.Gln1287Ter
XM_011528648.3:c.4204C>T	XP_011526950.1:p.Gln1402Ter
XM_011528652.2:c.3859C>T	XP_011526954.1:p.Gln1287Ter
XM_017027704.1:c.3859C>T	XP_016883193.1:p.Gln1287Ter
XM_017027705.1:c.3859C>T	XP_016883194.1:p.Gln1287Ter
XM_017027706.1:c.3790C>T	XP_016883195.1:p.Gln1264Ter
NM_015338.6:c.3943C>T MANE Select	NP_056153.2:p.Gln1315Ter