Canonical Allele Identifier: CA408562730

Gene: ASXL1

Linked Data

• dbSNP Id: rs773004587
• gnomAD v4: 20-32435992-C-G
• MyVariant Identifiers: chr20:g.31023795C>G (hg19) ; chr20:g.32435992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435992C>G , CM000682.2:g.32435992C>G	GRCh38
NC_000020.10:g.31023795C>G , CM000682.1:g.31023795C>G	GRCh37
NC_000020.9:g.30487456C>G	NCBI36
NG_027868.1:g.82649C>G , LRG_630:g.82649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3280C>G MANE Select	ENSP00000364839.4:p.Leu1094Val
ENST00000646985.1:c.3097C>G	ENSP00000495053.1:p.Leu1033Val
ENST00000647223.1:n.5633C>G
ENST00000651418.1:c.1869+1411C>G	ENSP00000499150.1:n.1869+1411C>G
ENST00000306058.9:c.3265C>G	ENSP00000305119.5:p.Leu1089Val
ENST00000375687.8:c.3280C>G	ENSP00000364839.4:p.Leu1094Val
ENST00000613218.4:c.3280C>G	ENSP00000480487.1:p.Leu1094Val
ENST00000620121.4:c.3280C>G	ENSP00000481978.1:p.Leu1094Val
NM_015338.5:c.3280C>G , LRG_630t1:c.3280C>G	NP_056153.2:p.Leu1094Val
XM_006723727.2:c.3277C>G	XP_006723790.1:p.Leu1093Val
XM_006723728.2:c.3250C>G	XP_006723791.1:p.Leu1084Val
XM_006723730.2:c.3196C>G	XP_006723793.1:p.Leu1066Val
XM_006723732.2:c.3097C>G	XP_006723795.1:p.Leu1033Val
XM_006723733.1:c.2596C>G	XP_006723796.1:p.Leu866Val
XM_011528647.1:c.3544C>G	XP_011526949.1:p.Leu1182Val
XM_011528648.1:c.3541C>G	XP_011526950.1:p.Leu1181Val
XM_011528649.1:c.3460C>G	XP_011526951.1:p.Leu1154Val
XM_011528650.1:c.3391C>G	XP_011526952.1:p.Leu1131Val
XM_011528651.1:c.3259C>G	XP_011526953.1:p.Leu1087Val
XM_011528652.1:c.3196C>G	XP_011526954.1:p.Leu1066Val
NM_001363734.1:c.3097C>G	NP_001350663.1:p.Leu1033Val
XM_006723727.3:c.3277C>G	XP_006723790.1:p.Leu1093Val
XM_006723728.3:c.3250C>G	XP_006723791.1:p.Leu1084Val
XM_006723730.4:c.3196C>G	XP_006723793.1:p.Leu1066Val
XM_011528648.3:c.3541C>G	XP_011526950.1:p.Leu1181Val
XM_011528652.2:c.3196C>G	XP_011526954.1:p.Leu1066Val
XM_017027704.1:c.3196C>G	XP_016883193.1:p.Leu1066Val
XM_017027705.1:c.3196C>G	XP_016883194.1:p.Leu1066Val
XM_017027706.1:c.3127C>G	XP_016883195.1:p.Leu1043Val
NM_015338.6:c.3280C>G MANE Select	NP_056153.2:p.Leu1094Val