Canonical Allele Identifier: CA408563015

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2963784
• ClinVar RCV Id: RCV003825422
• dbSNP Id: rs371545683
• gnomAD v2: 20-31023931-C-G
• gnomAD v4: 20-32436128-C-G
• MyVariant Identifiers: chr20:g.31023931C>G (hg19) ; chr20:g.32436128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436128C>G , CM000682.2:g.32436128C>G	GRCh38
NC_000020.10:g.31023931C>G , CM000682.1:g.31023931C>G	GRCh37
NC_000020.9:g.30487592C>G	NCBI36
NG_027868.1:g.82785C>G , LRG_630:g.82785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3416C>G MANE Select	ENSP00000364839.4:p.Thr1139Arg
ENST00000646985.1:c.3233C>G	ENSP00000495053.1:p.Thr1078Arg
ENST00000647223.1:n.5769C>G
ENST00000651418.1:c.1869+1547C>G	ENSP00000499150.1:n.1869+1547C>G
ENST00000306058.9:c.3401C>G	ENSP00000305119.5:p.Thr1134Arg
ENST00000375687.8:c.3416C>G	ENSP00000364839.4:p.Thr1139Arg
ENST00000613218.4:c.3416C>G	ENSP00000480487.1:p.Thr1139Arg
ENST00000620121.4:c.3416C>G	ENSP00000481978.1:p.Thr1139Arg
NM_015338.5:c.3416C>G , LRG_630t1:c.3416C>G	NP_056153.2:p.Thr1139Arg
XM_006723727.2:c.3413C>G	XP_006723790.1:p.Thr1138Arg
XM_006723728.2:c.3386C>G	XP_006723791.1:p.Thr1129Arg
XM_006723730.2:c.3332C>G	XP_006723793.1:p.Thr1111Arg
XM_006723732.2:c.3233C>G	XP_006723795.1:p.Thr1078Arg
XM_006723733.1:c.2732C>G	XP_006723796.1:p.Thr911Arg
XM_011528647.1:c.3680C>G	XP_011526949.1:p.Thr1227Arg
XM_011528648.1:c.3677C>G	XP_011526950.1:p.Thr1226Arg
XM_011528649.1:c.3596C>G	XP_011526951.1:p.Thr1199Arg
XM_011528650.1:c.3527C>G	XP_011526952.1:p.Thr1176Arg
XM_011528651.1:c.3395C>G	XP_011526953.1:p.Thr1132Arg
XM_011528652.1:c.3332C>G	XP_011526954.1:p.Thr1111Arg
NM_001363734.1:c.3233C>G	NP_001350663.1:p.Thr1078Arg
XM_006723727.3:c.3413C>G	XP_006723790.1:p.Thr1138Arg
XM_006723728.3:c.3386C>G	XP_006723791.1:p.Thr1129Arg
XM_006723730.4:c.3332C>G	XP_006723793.1:p.Thr1111Arg
XM_011528648.3:c.3677C>G	XP_011526950.1:p.Thr1226Arg
XM_011528652.2:c.3332C>G	XP_011526954.1:p.Thr1111Arg
XM_017027704.1:c.3332C>G	XP_016883193.1:p.Thr1111Arg
XM_017027705.1:c.3332C>G	XP_016883194.1:p.Thr1111Arg
XM_017027706.1:c.3263C>G	XP_016883195.1:p.Thr1088Arg
NM_015338.6:c.3416C>G MANE Select	NP_056153.2:p.Thr1139Arg