Canonical Allele Identifier: CA416674748
Gene: PINK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20964598C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20638105C>T , CM000663.2:g.20638105C>T GRCh38
NC_000001.10:g.20964598C>T , CM000663.1:g.20964598C>T GRCh37
NC_000001.9:g.20837185C>T NCBI36
NG_008164.1:g.9651C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.651C>T MANE Select ENSP00000364204.3:p.Ala217=
ENST00000321556.4:c.651C>T ENSP00000364204.3:p.Ala217=
NM_032409.2:c.651C>T NP_115785.1:p.Ala217=
NM_032409.3:c.651C>T MANE Select NP_115785.1:p.Ala217=