Canonical Allele Identifier: CA408564326

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1960951
• ClinVar RCV Id: RCV002706737 ; RCV003138336
• dbSNP Id: rs2011922573
• gnomAD v3: 20-32436758-T-C
• gnomAD v4: 20-32436758-T-C
• COSMIC: COSM5368402 ; COSM5368403
• MyVariant Identifiers: chr20:g.31024561T>C (hg19) ; chr20:g.32436758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436758T>C , CM000682.2:g.32436758T>C	GRCh38
NC_000020.10:g.31024561T>C , CM000682.1:g.31024561T>C	GRCh37
NC_000020.9:g.30488222T>C	NCBI36
NG_027868.1:g.83415T>C , LRG_630:g.83415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4046T>C MANE Select	ENSP00000364839.4:p.Val1349Ala
ENST00000646985.1:c.3863T>C	ENSP00000495053.1:p.Val1288Ala
ENST00000647223.1:n.6399T>C
ENST00000651418.1:c.1870-1672T>C	ENSP00000499150.1:n.1870-1672T>C
ENST00000306058.9:c.4031T>C	ENSP00000305119.5:p.Val1344Ala
ENST00000375687.8:c.4046T>C	ENSP00000364839.4:p.Val1349Ala
ENST00000613218.4:c.4046T>C	ENSP00000480487.1:p.Val1349Ala
ENST00000620121.4:c.4046T>C	ENSP00000481978.1:p.Val1349Ala
NM_015338.5:c.4046T>C , LRG_630t1:c.4046T>C	NP_056153.2:p.Val1349Ala
XM_006723727.2:c.4043T>C	XP_006723790.1:p.Val1348Ala
XM_006723728.2:c.4016T>C	XP_006723791.1:p.Val1339Ala
XM_006723730.2:c.3962T>C	XP_006723793.1:p.Val1321Ala
XM_006723732.2:c.3863T>C	XP_006723795.1:p.Val1288Ala
XM_006723733.1:c.3362T>C	XP_006723796.1:p.Val1121Ala
XM_011528647.1:c.4310T>C	XP_011526949.1:p.Val1437Ala
XM_011528648.1:c.4307T>C	XP_011526950.1:p.Val1436Ala
XM_011528649.1:c.4226T>C	XP_011526951.1:p.Val1409Ala
XM_011528650.1:c.4157T>C	XP_011526952.1:p.Val1386Ala
XM_011528651.1:c.4025T>C	XP_011526953.1:p.Val1342Ala
XM_011528652.1:c.3962T>C	XP_011526954.1:p.Val1321Ala
NM_001363734.1:c.3863T>C	NP_001350663.1:p.Val1288Ala
XM_006723727.3:c.4043T>C	XP_006723790.1:p.Val1348Ala
XM_006723728.3:c.4016T>C	XP_006723791.1:p.Val1339Ala
XM_006723730.4:c.3962T>C	XP_006723793.1:p.Val1321Ala
XM_011528648.3:c.4307T>C	XP_011526950.1:p.Val1436Ala
XM_011528652.2:c.3962T>C	XP_011526954.1:p.Val1321Ala
XM_017027704.1:c.3962T>C	XP_016883193.1:p.Val1321Ala
XM_017027705.1:c.3962T>C	XP_016883194.1:p.Val1321Ala
XM_017027706.1:c.3893T>C	XP_016883195.1:p.Val1298Ala
NM_015338.6:c.4046T>C MANE Select	NP_056153.2:p.Val1349Ala