Canonical Allele Identifier: CA1309465
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs747544495

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197102200G>A , CM000663.2:g.197102200G>A GRCh38
NC_000001.10:g.197071330G>A , CM000663.1:g.197071330G>A GRCh37
NC_000001.9:g.195337953G>A NCBI36
NG_015867.1:g.49495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-6036C>T
ENST00000367409.9:c.7051C>T MANE Select ENSP00000356379.4:p.His2351Tyr
ENST00000680265.1:c.7051C>T ENSP00000505384.1:p.His2351Tyr
ENST00000680710.1:c.7051C>T ENSP00000506676.1:p.His2351Tyr
ENST00000294732.11:c.4066-6036C>T ENSP00000294732.7:n.4066-6036C>T
ENST00000367408.5:c.1816-6036C>T ENSP00000356378.1:n.1816-6036C>T
ENST00000367409.8:c.7051C>T ENSP00000356379.4:p.His2351Tyr
ENST00000612785.1:c.1009C>T ENSP00000479244.1:p.His337Tyr
NM_001206846.1:c.4066-6036C>T NP_001193775.1:n.4066-6036C>T
NM_018136.4:c.7051C>T NP_060606.3:p.His2351Tyr
NM_018136.5:c.7051C>T MANE Select NP_060606.3:p.His2351Tyr
NM_001206846.2:c.4066-6036C>T NP_001193775.1:n.4066-6036C>T