Canonical Allele Identifier: CA408563442

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145384694
• MyVariant Identifiers: chr20:g.31024135T>A (hg19) ; chr20:g.32436332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436332T>A , CM000682.2:g.32436332T>A	GRCh38
NC_000020.10:g.31024135T>A , CM000682.1:g.31024135T>A	GRCh37
NC_000020.9:g.30487796T>A	NCBI36
NG_027868.1:g.82989T>A , LRG_630:g.82989T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3620T>A MANE Select	ENSP00000364839.4:p.Val1207Asp
ENST00000646985.1:c.3437T>A	ENSP00000495053.1:p.Val1146Asp
ENST00000647223.1:n.5973T>A
ENST00000651418.1:c.1869+1751T>A	ENSP00000499150.1:n.1869+1751T>A
ENST00000306058.9:c.3605T>A	ENSP00000305119.5:p.Val1202Asp
ENST00000375687.8:c.3620T>A	ENSP00000364839.4:p.Val1207Asp
ENST00000613218.4:c.3620T>A	ENSP00000480487.1:p.Val1207Asp
ENST00000620121.4:c.3620T>A	ENSP00000481978.1:p.Val1207Asp
NM_015338.5:c.3620T>A , LRG_630t1:c.3620T>A	NP_056153.2:p.Val1207Asp
XM_006723727.2:c.3617T>A	XP_006723790.1:p.Val1206Asp
XM_006723728.2:c.3590T>A	XP_006723791.1:p.Val1197Asp
XM_006723730.2:c.3536T>A	XP_006723793.1:p.Val1179Asp
XM_006723732.2:c.3437T>A	XP_006723795.1:p.Val1146Asp
XM_006723733.1:c.2936T>A	XP_006723796.1:p.Val979Asp
XM_011528647.1:c.3884T>A	XP_011526949.1:p.Val1295Asp
XM_011528648.1:c.3881T>A	XP_011526950.1:p.Val1294Asp
XM_011528649.1:c.3800T>A	XP_011526951.1:p.Val1267Asp
XM_011528650.1:c.3731T>A	XP_011526952.1:p.Val1244Asp
XM_011528651.1:c.3599T>A	XP_011526953.1:p.Val1200Asp
XM_011528652.1:c.3536T>A	XP_011526954.1:p.Val1179Asp
NM_001363734.1:c.3437T>A	NP_001350663.1:p.Val1146Asp
XM_006723727.3:c.3617T>A	XP_006723790.1:p.Val1206Asp
XM_006723728.3:c.3590T>A	XP_006723791.1:p.Val1197Asp
XM_006723730.4:c.3536T>A	XP_006723793.1:p.Val1179Asp
XM_011528648.3:c.3881T>A	XP_011526950.1:p.Val1294Asp
XM_011528652.2:c.3536T>A	XP_011526954.1:p.Val1179Asp
XM_017027704.1:c.3536T>A	XP_016883193.1:p.Val1179Asp
XM_017027705.1:c.3536T>A	XP_016883194.1:p.Val1179Asp
XM_017027706.1:c.3467T>A	XP_016883195.1:p.Val1156Asp
NM_015338.6:c.3620T>A MANE Select	NP_056153.2:p.Val1207Asp