Canonical Allele Identifier: CA342259
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21590
ClinVar RCV Id: RCV000020780
dbSNP Id: rs148294838

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104115G>T , CM000663.2:g.197104115G>T GRCh38
NC_000001.10:g.197073245G>T , CM000663.1:g.197073245G>T GRCh37
NC_000001.9:g.195339868G>T NCBI36
NG_015867.1:g.47580C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-7951C>A
ENST00000367409.9:c.5136C>A MANE Select ENSP00000356379.4:p.Tyr1712Ter
ENST00000680265.1:c.5136C>A ENSP00000505384.1:p.Tyr1712Ter
ENST00000680710.1:n.5136C>A ENSP00000506676.1:p.Tyr1712Ter
ENST00000294732.11:c.4066-7951C>A ENSP00000294732.7:n.4066-7951C>A
ENST00000367408.5:c.1816-7951C>A ENSP00000356378.1:n.1816-7951C>A
ENST00000367409.8:c.5136C>A ENSP00000356379.4:p.Tyr1712Ter
ENST00000612785.1:c.562-1468C>A ENSP00000479244.1:n.562-1468C>A
NM_001206846.1:c.4066-7951C>A NP_001193775.1:n.4066-7951C>A
NM_018136.4:c.5136C>A NP_060606.3:p.Tyr1712Ter
NM_018136.5:c.5136C>A MANE Select NP_060606.3:p.Tyr1712Ter
NM_001206846.2:c.4066-7951C>A NP_001193775.1:n.4066-7951C>A