Canonical Allele Identifier: CA340333
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 4964
ClinVar RCV Id: RCV000005252
dbSNP Id: rs199422163

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197105056dup , CM000663.2:g.197105056dup GRCh38
NC_000001.10:g.197074186dup , CM000663.1:g.197074186dup GRCh37
NC_000001.9:g.195340809dup NCBI36
NG_015867.1:g.46639dup

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-8892dup
ENST00000367409.9:c.4195dup MANE Select ENSP00000356379.4:p.Thr1399AsnfsTer20
ENST00000680265.1:c.4195dup ENSP00000505384.1:p.Thr1399AsnfsTer20
ENST00000680710.1:c.4195dup ENSP00000506676.1:p.Thr1399AsnfsTer20
ENST00000681879.1:c.4243dup ENSP00000505363.1:n.4243dup
ENST00000294732.11:c.4066-8892dup ENSP00000294732.7:n.4066-8892dup
ENST00000367408.5:c.1816-8892dup ENSP00000356378.1:n.1816-8892dup
ENST00000367409.8:c.4195dup ENSP00000356379.4:p.Thr1399AsnfsTer20
ENST00000612785.1:c.562-2409dup ENSP00000479244.1:n.562-2409dup
NM_001206846.1:c.4066-8892dup NP_001193775.1:n.4066-8892dup
NM_018136.4:c.4195dup NP_060606.3:p.Thr1399AsnfsTer20
NM_018136.5:c.4195dup MANE Select NP_060606.3:p.Thr1399AsnfsTer20
NM_001206846.2:c.4066-8892dup NP_001193775.1:n.4066-8892dup