Canonical Allele Identifier: CA338833764
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645643A>T , CM000663.2:g.20645643A>T GRCh38
NC_000001.10:g.20972136A>T , CM000663.1:g.20972136A>T GRCh37
NC_000001.9:g.20844723A>T NCBI36
NG_008164.1:g.17189A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1043A>T (PINK1) MANE Select ENSP00000364204.3:p.Glu348Val
ENST00000321556.4:c.1043A>T (PINK1) ENSP00000364204.3:p.Glu348Val
ENST00000400490.2:n.136A>T (PINK1)
ENST00000492302.1:n.2131A>T (PINK1)
NM_032409.2:c.1043A>T (PINK1) NP_115785.1:p.Glu348Val
NR_046507.1:n.3923T>A (PINK1-AS)
NM_032409.3:c.1043A>T (PINK1) MANE Select NP_115785.1:p.Glu348Val