Canonical Allele Identifier: CA171242
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21599
dbSNP Id: rs964201

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101771A>G , CM000663.2:g.197101771A>G GRCh38
NC_000001.10:g.197070901A>G , CM000663.1:g.197070901A>G GRCh37
NC_000001.9:g.195337524A>G NCBI36
NG_015867.1:g.49924T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-5607T>C
ENST00000367409.9:c.7480T>C MANE Select ENSP00000356379.4:p.Tyr2494His
ENST00000680265.1:c.7480T>C ENSP00000505384.1:p.Tyr2494His
ENST00000680710.1:n.7480T>C ENSP00000506676.1:p.Tyr2494His
ENST00000294732.11:c.4066-5607T>C ENSP00000294732.7:p.=
ENST00000367408.5:c.1816-5607T>C ENSP00000356378.1:p.=
ENST00000367409.8:c.7480T>C ENSP00000356379.4:p.Tyr2494His
ENST00000612785.1:c.1438T>C ENSP00000479244.1:p.Tyr480His
NM_001206846.1:c.4066-5607T>C NP_001193775.1:p.=
NM_018136.4:c.7480T>C NP_060606.3:p.Tyr2494His
NM_018136.5:c.7480T>C MANE Select NP_060606.3:p.Tyr2494His
NM_001206846.2:c.4066-5607T>C NP_001193775.1:p.=