Canonical Allele Identifier: CA9808967

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1537526
• ClinVar RCV Id: RCV002166990
• dbSNP Id: rs201989261
• ExAC: 20:31024630 C / G
• gnomAD v2: 20-31024630-C-G
• gnomAD v3: 20-32436827-C-G
• gnomAD v4: 20-32436827-C-G
• MyVariant Identifiers: chr20:g.31024630C>G (hg19) ; chr20:g.32436827C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436827C>G , CM000682.2:g.32436827C>G	GRCh38
NC_000020.10:g.31024630C>G , CM000682.1:g.31024630C>G	GRCh37
NC_000020.9:g.30488291C>G	NCBI36
NG_027868.1:g.83484C>G , LRG_630:g.83484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4115C>G MANE Select	ENSP00000364839.4:p.Thr1372Ser
ENST00000646985.1:c.3932C>G	ENSP00000495053.1:p.Thr1311Ser
ENST00000647223.1:n.6468C>G
ENST00000651418.1:c.1870-1603C>G	ENSP00000499150.1:n.1870-1603C>G
ENST00000306058.9:c.4100C>G	ENSP00000305119.5:p.Thr1367Ser
ENST00000375687.8:c.4115C>G	ENSP00000364839.4:p.Thr1372Ser
ENST00000613218.4:c.4115C>G	ENSP00000480487.1:p.Thr1372Ser
ENST00000620121.4:c.4115C>G	ENSP00000481978.1:p.Thr1372Ser
NM_015338.5:c.4115C>G , LRG_630t1:c.4115C>G	NP_056153.2:p.Thr1372Ser
XM_006723727.2:c.4112C>G	XP_006723790.1:p.Thr1371Ser
XM_006723728.2:c.4085C>G	XP_006723791.1:p.Thr1362Ser
XM_006723730.2:c.4031C>G	XP_006723793.1:p.Thr1344Ser
XM_006723732.2:c.3932C>G	XP_006723795.1:p.Thr1311Ser
XM_006723733.1:c.3431C>G	XP_006723796.1:p.Thr1144Ser
XM_011528647.1:c.4379C>G	XP_011526949.1:p.Thr1460Ser
XM_011528648.1:c.4376C>G	XP_011526950.1:p.Thr1459Ser
XM_011528649.1:c.4295C>G	XP_011526951.1:p.Thr1432Ser
XM_011528650.1:c.4226C>G	XP_011526952.1:p.Thr1409Ser
XM_011528651.1:c.4094C>G	XP_011526953.1:p.Thr1365Ser
XM_011528652.1:c.4031C>G	XP_011526954.1:p.Thr1344Ser
NM_001363734.1:c.3932C>G	NP_001350663.1:p.Thr1311Ser
XM_006723727.3:c.4112C>G	XP_006723790.1:p.Thr1371Ser
XM_006723728.3:c.4085C>G	XP_006723791.1:p.Thr1362Ser
XM_006723730.4:c.4031C>G	XP_006723793.1:p.Thr1344Ser
XM_011528648.3:c.4376C>G	XP_011526950.1:p.Thr1459Ser
XM_011528652.2:c.4031C>G	XP_011526954.1:p.Thr1344Ser
XM_017027704.1:c.4031C>G	XP_016883193.1:p.Thr1344Ser
XM_017027705.1:c.4031C>G	XP_016883194.1:p.Thr1344Ser
XM_017027706.1:c.3962C>G	XP_016883195.1:p.Thr1321Ser
NM_015338.6:c.4115C>G MANE Select	NP_056153.2:p.Thr1372Ser