Canonical Allele Identifier: CA1310703

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2690547
• ClinVar RCV Id: RCV003486305
• dbSNP Id: rs773592526
• ExAC: 1:197111896 T / TG
• gnomAD v2: 1-197111896-T-TG
• gnomAD v4: 1-197142766-T-TG
• MyVariant Identifiers: chr1:g.197111896_197111897insG (hg19) ; chr1:g.197142766_197142767insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142768dup , CM000663.2:g.197142768dup	GRCh38
NC_000001.10:g.197111898dup , CM000663.1:g.197111898dup	GRCh37
NC_000001.9:g.195378521dup	NCBI36
NG_015867.1:g.8928dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1485dup MANE Select	ENSP00000356379.4:p.Thr496HisfsTer4
ENST00000679766.1:n.1702dup
ENST00000680265.1:c.1485dup	ENSP00000505384.1:p.Thr496HisfsTer4
ENST00000680710.1:c.1485dup	ENSP00000506676.1:p.Thr496HisfsTer4
ENST00000681879.1:c.1485dup	ENSP00000505363.1:p.Thr496HisfsTer4
ENST00000294732.11:c.1485dup	ENSP00000294732.7:p.Thr496HisfsTer4
ENST00000367409.8:c.1485dup	ENSP00000356379.4:p.Thr496HisfsTer4
ENST00000612785.1:c.561+924dup	ENSP00000479244.1:n.561+924dup
NM_001206846.1:c.1485dup	NP_001193775.1:p.Thr496HisfsTer4
NM_018136.4:c.1485dup	NP_060606.3:p.Thr496HisfsTer4
NM_018136.5:c.1485dup MANE Select	NP_060606.3:p.Thr496HisfsTer4
NM_001206846.2:c.1485dup	NP_001193775.1:p.Thr496HisfsTer4