Canonical Allele Identifier: CA408562676

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023771G>T (hg19) ; chr20:g.32435968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435968G>T , CM000682.2:g.32435968G>T	GRCh38
NC_000020.10:g.31023771G>T , CM000682.1:g.31023771G>T	GRCh37
NC_000020.9:g.30487432G>T	NCBI36
NG_027868.1:g.82625G>T , LRG_630:g.82625G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3256G>T MANE Select	ENSP00000364839.4:p.Glu1086Ter
ENST00000646985.1:c.3073G>T	ENSP00000495053.1:p.Glu1025Ter
ENST00000647223.1:n.5609G>T
ENST00000651418.1:c.1869+1387G>T	ENSP00000499150.1:n.1869+1387G>T
ENST00000306058.9:c.3241G>T	ENSP00000305119.5:p.Glu1081Ter
ENST00000375687.8:c.3256G>T	ENSP00000364839.4:p.Glu1086Ter
ENST00000613218.4:c.3256G>T	ENSP00000480487.1:p.Glu1086Ter
ENST00000620121.4:c.3256G>T	ENSP00000481978.1:p.Glu1086Ter
NM_015338.5:c.3256G>T , LRG_630t1:c.3256G>T	NP_056153.2:p.Glu1086Ter
XM_006723727.2:c.3253G>T	XP_006723790.1:p.Glu1085Ter
XM_006723728.2:c.3226G>T	XP_006723791.1:p.Glu1076Ter
XM_006723730.2:c.3172G>T	XP_006723793.1:p.Glu1058Ter
XM_006723732.2:c.3073G>T	XP_006723795.1:p.Glu1025Ter
XM_006723733.1:c.2572G>T	XP_006723796.1:p.Glu858Ter
XM_011528647.1:c.3520G>T	XP_011526949.1:p.Glu1174Ter
XM_011528648.1:c.3517G>T	XP_011526950.1:p.Glu1173Ter
XM_011528649.1:c.3436G>T	XP_011526951.1:p.Glu1146Ter
XM_011528650.1:c.3367G>T	XP_011526952.1:p.Glu1123Ter
XM_011528651.1:c.3235G>T	XP_011526953.1:p.Glu1079Ter
XM_011528652.1:c.3172G>T	XP_011526954.1:p.Glu1058Ter
NM_001363734.1:c.3073G>T	NP_001350663.1:p.Glu1025Ter
XM_006723727.3:c.3253G>T	XP_006723790.1:p.Glu1085Ter
XM_006723728.3:c.3226G>T	XP_006723791.1:p.Glu1076Ter
XM_006723730.4:c.3172G>T	XP_006723793.1:p.Glu1058Ter
XM_011528648.3:c.3517G>T	XP_011526950.1:p.Glu1173Ter
XM_011528652.2:c.3172G>T	XP_011526954.1:p.Glu1058Ter
XM_017027704.1:c.3172G>T	XP_016883193.1:p.Glu1058Ter
XM_017027705.1:c.3172G>T	XP_016883194.1:p.Glu1058Ter
XM_017027706.1:c.3103G>T	XP_016883195.1:p.Glu1035Ter
NM_015338.6:c.3256G>T MANE Select	NP_056153.2:p.Glu1086Ter