Canonical Allele Identifier: CA408564383

Gene: ASXL1

Linked Data

• dbSNP Id: rs1342576866
• gnomAD v2: 20-31024588-C-G
• gnomAD v3: 20-32436785-C-G
• gnomAD v4: 20-32436785-C-G
• MyVariant Identifiers: chr20:g.31024588C>G (hg19) ; chr20:g.32436785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436785C>G , CM000682.2:g.32436785C>G	GRCh38
NC_000020.10:g.31024588C>G , CM000682.1:g.31024588C>G	GRCh37
NC_000020.9:g.30488249C>G	NCBI36
NG_027868.1:g.83442C>G , LRG_630:g.83442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4073C>G MANE Select	ENSP00000364839.4:p.Pro1358Arg
ENST00000646985.1:c.3890C>G	ENSP00000495053.1:p.Pro1297Arg
ENST00000647223.1:n.6426C>G
ENST00000651418.1:c.1870-1645C>G	ENSP00000499150.1:n.1870-1645C>G
ENST00000306058.9:c.4058C>G	ENSP00000305119.5:p.Pro1353Arg
ENST00000375687.8:c.4073C>G	ENSP00000364839.4:p.Pro1358Arg
ENST00000613218.4:c.4073C>G	ENSP00000480487.1:p.Pro1358Arg
ENST00000620121.4:c.4073C>G	ENSP00000481978.1:p.Pro1358Arg
NM_015338.5:c.4073C>G , LRG_630t1:c.4073C>G	NP_056153.2:p.Pro1358Arg
XM_006723727.2:c.4070C>G	XP_006723790.1:p.Pro1357Arg
XM_006723728.2:c.4043C>G	XP_006723791.1:p.Pro1348Arg
XM_006723730.2:c.3989C>G	XP_006723793.1:p.Pro1330Arg
XM_006723732.2:c.3890C>G	XP_006723795.1:p.Pro1297Arg
XM_006723733.1:c.3389C>G	XP_006723796.1:p.Pro1130Arg
XM_011528647.1:c.4337C>G	XP_011526949.1:p.Pro1446Arg
XM_011528648.1:c.4334C>G	XP_011526950.1:p.Pro1445Arg
XM_011528649.1:c.4253C>G	XP_011526951.1:p.Pro1418Arg
XM_011528650.1:c.4184C>G	XP_011526952.1:p.Pro1395Arg
XM_011528651.1:c.4052C>G	XP_011526953.1:p.Pro1351Arg
XM_011528652.1:c.3989C>G	XP_011526954.1:p.Pro1330Arg
NM_001363734.1:c.3890C>G	NP_001350663.1:p.Pro1297Arg
XM_006723727.3:c.4070C>G	XP_006723790.1:p.Pro1357Arg
XM_006723728.3:c.4043C>G	XP_006723791.1:p.Pro1348Arg
XM_006723730.4:c.3989C>G	XP_006723793.1:p.Pro1330Arg
XM_011528648.3:c.4334C>G	XP_011526950.1:p.Pro1445Arg
XM_011528652.2:c.3989C>G	XP_011526954.1:p.Pro1330Arg
XM_017027704.1:c.3989C>G	XP_016883193.1:p.Pro1330Arg
XM_017027705.1:c.3989C>G	XP_016883194.1:p.Pro1330Arg
XM_017027706.1:c.3920C>G	XP_016883195.1:p.Pro1307Arg
NM_015338.6:c.4073C>G MANE Select	NP_056153.2:p.Pro1358Arg