Canonical Allele Identifier: CA338833057
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645573C>A , CM000663.2:g.20645573C>A GRCh38
NC_000001.10:g.20972066C>A , CM000663.1:g.20972066C>A GRCh37
NC_000001.9:g.20844653C>A NCBI36
NG_008164.1:g.17119C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.973C>A (PINK1) MANE Select ENSP00000364204.3:p.Leu325Met
ENST00000321556.4:c.973C>A (PINK1) ENSP00000364204.3:p.Leu325Met
ENST00000400490.2:n.66C>A (PINK1)
ENST00000492302.1:n.2061C>A (PINK1)
NM_032409.2:c.973C>A (PINK1) NP_115785.1:p.Leu325Met
NR_046507.1:n.3981+12G>T (PINK1-AS)
NM_032409.3:c.973C>A (PINK1) MANE Select NP_115785.1:p.Leu325Met