Canonical Allele Identifier: CA408563269

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024051C>T (hg19) ; chr20:g.32436248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436248C>T , CM000682.2:g.32436248C>T	GRCh38
NC_000020.10:g.31024051C>T , CM000682.1:g.31024051C>T	GRCh37
NC_000020.9:g.30487712C>T	NCBI36
NG_027868.1:g.82905C>T , LRG_630:g.82905C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3536C>T MANE Select	ENSP00000364839.4:p.Pro1179Leu
ENST00000646985.1:c.3353C>T	ENSP00000495053.1:p.Pro1118Leu
ENST00000647223.1:n.5889C>T
ENST00000651418.1:c.1869+1667C>T	ENSP00000499150.1:n.1869+1667C>T
ENST00000306058.9:c.3521C>T	ENSP00000305119.5:p.Pro1174Leu
ENST00000375687.8:c.3536C>T	ENSP00000364839.4:p.Pro1179Leu
ENST00000613218.4:c.3536C>T	ENSP00000480487.1:p.Pro1179Leu
ENST00000620121.4:c.3536C>T	ENSP00000481978.1:p.Pro1179Leu
NM_015338.5:c.3536C>T , LRG_630t1:c.3536C>T	NP_056153.2:p.Pro1179Leu
XM_006723727.2:c.3533C>T	XP_006723790.1:p.Pro1178Leu
XM_006723728.2:c.3506C>T	XP_006723791.1:p.Pro1169Leu
XM_006723730.2:c.3452C>T	XP_006723793.1:p.Pro1151Leu
XM_006723732.2:c.3353C>T	XP_006723795.1:p.Pro1118Leu
XM_006723733.1:c.2852C>T	XP_006723796.1:p.Pro951Leu
XM_011528647.1:c.3800C>T	XP_011526949.1:p.Pro1267Leu
XM_011528648.1:c.3797C>T	XP_011526950.1:p.Pro1266Leu
XM_011528649.1:c.3716C>T	XP_011526951.1:p.Pro1239Leu
XM_011528650.1:c.3647C>T	XP_011526952.1:p.Pro1216Leu
XM_011528651.1:c.3515C>T	XP_011526953.1:p.Pro1172Leu
XM_011528652.1:c.3452C>T	XP_011526954.1:p.Pro1151Leu
NM_001363734.1:c.3353C>T	NP_001350663.1:p.Pro1118Leu
XM_006723727.3:c.3533C>T	XP_006723790.1:p.Pro1178Leu
XM_006723728.3:c.3506C>T	XP_006723791.1:p.Pro1169Leu
XM_006723730.4:c.3452C>T	XP_006723793.1:p.Pro1151Leu
XM_011528648.3:c.3797C>T	XP_011526950.1:p.Pro1266Leu
XM_011528652.2:c.3452C>T	XP_011526954.1:p.Pro1151Leu
XM_017027704.1:c.3452C>T	XP_016883193.1:p.Pro1151Leu
XM_017027705.1:c.3452C>T	XP_016883194.1:p.Pro1151Leu
XM_017027706.1:c.3383C>T	XP_016883195.1:p.Pro1128Leu
NM_015338.6:c.3536C>T MANE Select	NP_056153.2:p.Pro1179Leu