Canonical Allele Identifier: CA408562557

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023711G>A (hg19) ; chr20:g.32435908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435908G>A , CM000682.2:g.32435908G>A	GRCh38
NC_000020.10:g.31023711G>A , CM000682.1:g.31023711G>A	GRCh37
NC_000020.9:g.30487372G>A	NCBI36
NG_027868.1:g.82565G>A , LRG_630:g.82565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3196G>A MANE Select	ENSP00000364839.4:p.Val1066Met
ENST00000646985.1:c.3013G>A	ENSP00000495053.1:p.Val1005Met
ENST00000647223.1:n.5549G>A
ENST00000651418.1:c.1869+1327G>A	ENSP00000499150.1:n.1869+1327G>A
ENST00000306058.9:c.3181G>A	ENSP00000305119.5:p.Val1061Met
ENST00000375687.8:c.3196G>A	ENSP00000364839.4:p.Val1066Met
ENST00000613218.4:c.3196G>A	ENSP00000480487.1:p.Val1066Met
ENST00000620121.4:c.3196G>A	ENSP00000481978.1:p.Val1066Met
NM_015338.5:c.3196G>A , LRG_630t1:c.3196G>A	NP_056153.2:p.Val1066Met
XM_006723727.2:c.3193G>A	XP_006723790.1:p.Val1065Met
XM_006723728.2:c.3166G>A	XP_006723791.1:p.Val1056Met
XM_006723730.2:c.3112G>A	XP_006723793.1:p.Val1038Met
XM_006723732.2:c.3013G>A	XP_006723795.1:p.Val1005Met
XM_006723733.1:c.2512G>A	XP_006723796.1:p.Val838Met
XM_011528647.1:c.3460G>A	XP_011526949.1:p.Val1154Met
XM_011528648.1:c.3457G>A	XP_011526950.1:p.Val1153Met
XM_011528649.1:c.3376G>A	XP_011526951.1:p.Val1126Met
XM_011528650.1:c.3307G>A	XP_011526952.1:p.Val1103Met
XM_011528651.1:c.3175G>A	XP_011526953.1:p.Val1059Met
XM_011528652.1:c.3112G>A	XP_011526954.1:p.Val1038Met
NM_001363734.1:c.3013G>A	NP_001350663.1:p.Val1005Met
XM_006723727.3:c.3193G>A	XP_006723790.1:p.Val1065Met
XM_006723728.3:c.3166G>A	XP_006723791.1:p.Val1056Met
XM_006723730.4:c.3112G>A	XP_006723793.1:p.Val1038Met
XM_011528648.3:c.3457G>A	XP_011526950.1:p.Val1153Met
XM_011528652.2:c.3112G>A	XP_011526954.1:p.Val1038Met
XM_017027704.1:c.3112G>A	XP_016883193.1:p.Val1038Met
XM_017027705.1:c.3112G>A	XP_016883194.1:p.Val1038Met
XM_017027706.1:c.3043G>A	XP_016883195.1:p.Val1015Met
NM_015338.6:c.3196G>A MANE Select	NP_056153.2:p.Val1066Met