Canonical Allele Identifier: CA252272
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

ClinVar Variation Id: 2408
ClinVar RCV Id: RCV000002509
dbSNP Id: rs28940285

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645640T>C , CM000663.2:g.20645640T>C GRCh38
NC_000001.10:g.20972133T>C , CM000663.1:g.20972133T>C GRCh37
NC_000001.9:g.20844720T>C NCBI36
NG_008164.1:g.17186T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1040T>C (PINK1) MANE Select ENSP00000364204.3:p.Leu347Pro
ENST00000321556.4:c.1040T>C (PINK1) ENSP00000364204.3:p.Leu347Pro
ENST00000400490.2:n.133T>C (PINK1)
ENST00000492302.1:n.2128T>C (PINK1)
NM_032409.2:c.1040T>C (PINK1) NP_115785.1:p.Leu347Pro
NR_046507.1:n.3926A>G (PINK1-AS)
NM_032409.3:c.1040T>C (PINK1) MANE Select NP_115785.1:p.Leu347Pro