Canonical Allele Identifier: CA338836823
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs780102678
MyVariant Identifiers: chr1:g.20975074C>G (hg19) chr1:g.20648581C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648581C>G , CM000663.2:g.20648581C>G GRCh38
NC_000001.10:g.20975074C>G , CM000663.1:g.20975074C>G GRCh37
NC_000001.9:g.20847661C>G NCBI36
NG_008164.1:g.20127C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1200C>G (PINK1) MANE Select ENSP00000364204.3:p.Phe400Leu
ENST00000321556.4:c.1200C>G (PINK1) ENSP00000364204.3:p.Phe400Leu
ENST00000400490.2:n.293C>G (PINK1)
ENST00000492302.1:n.2288C>G (PINK1)
NM_032409.2:c.1200C>G (PINK1) NP_115785.1:p.Phe400Leu
NR_046507.1:n.3613G>C (PINK1-AS)
NM_032409.3:c.1200C>G (PINK1) MANE Select NP_115785.1:p.Phe400Leu
Search 100 bp 5'
Search 100 bp 3'