Canonical Allele Identifier: CA408562535

Gene: ASXL1

Linked Data

• dbSNP Id: rs1311033207
• gnomAD v2: 20-31023702-C-T
• gnomAD v3: 20-32435899-C-T
• gnomAD v4: 20-32435899-C-T
• COSMIC: COSM159235
• MyVariant Identifiers: chr20:g.31023702C>T (hg19) ; chr20:g.32435899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435899C>T , CM000682.2:g.32435899C>T	GRCh38
NC_000020.10:g.31023702C>T , CM000682.1:g.31023702C>T	GRCh37
NC_000020.9:g.30487363C>T	NCBI36
NG_027868.1:g.82556C>T , LRG_630:g.82556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3187C>T MANE Select	ENSP00000364839.4:p.Gln1063Ter
ENST00000646985.1:c.3004C>T	ENSP00000495053.1:p.Gln1002Ter
ENST00000647223.1:n.5540C>T
ENST00000651418.1:c.1869+1318C>T	ENSP00000499150.1:n.1869+1318C>T
ENST00000306058.9:c.3172C>T	ENSP00000305119.5:p.Gln1058Ter
ENST00000375687.8:c.3187C>T	ENSP00000364839.4:p.Gln1063Ter
ENST00000613218.4:c.3187C>T	ENSP00000480487.1:p.Gln1063Ter
ENST00000620121.4:c.3187C>T	ENSP00000481978.1:p.Gln1063Ter
NM_015338.5:c.3187C>T , LRG_630t1:c.3187C>T	NP_056153.2:p.Gln1063Ter
XM_006723727.2:c.3184C>T	XP_006723790.1:p.Gln1062Ter
XM_006723728.2:c.3157C>T	XP_006723791.1:p.Gln1053Ter
XM_006723730.2:c.3103C>T	XP_006723793.1:p.Gln1035Ter
XM_006723732.2:c.3004C>T	XP_006723795.1:p.Gln1002Ter
XM_006723733.1:c.2503C>T	XP_006723796.1:p.Gln835Ter
XM_011528647.1:c.3451C>T	XP_011526949.1:p.Gln1151Ter
XM_011528648.1:c.3448C>T	XP_011526950.1:p.Gln1150Ter
XM_011528649.1:c.3367C>T	XP_011526951.1:p.Gln1123Ter
XM_011528650.1:c.3298C>T	XP_011526952.1:p.Gln1100Ter
XM_011528651.1:c.3166C>T	XP_011526953.1:p.Gln1056Ter
XM_011528652.1:c.3103C>T	XP_011526954.1:p.Gln1035Ter
NM_001363734.1:c.3004C>T	NP_001350663.1:p.Gln1002Ter
XM_006723727.3:c.3184C>T	XP_006723790.1:p.Gln1062Ter
XM_006723728.3:c.3157C>T	XP_006723791.1:p.Gln1053Ter
XM_006723730.4:c.3103C>T	XP_006723793.1:p.Gln1035Ter
XM_011528648.3:c.3448C>T	XP_011526950.1:p.Gln1150Ter
XM_011528652.2:c.3103C>T	XP_011526954.1:p.Gln1035Ter
XM_017027704.1:c.3103C>T	XP_016883193.1:p.Gln1035Ter
XM_017027705.1:c.3103C>T	XP_016883194.1:p.Gln1035Ter
XM_017027706.1:c.3034C>T	XP_016883195.1:p.Gln1012Ter
NM_015338.6:c.3187C>T MANE Select	NP_056153.2:p.Gln1063Ter