Canonical Allele Identifier: CA2742739429
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645489A>C , CM000663.2:g.20645489A>C GRCh38
NC_000001.10:g.20971982A>C , CM000663.1:g.20971982A>C GRCh37
NC_000001.9:g.20844569A>C NCBI36
NG_008164.1:g.17035A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-71A>C (PINK1) MANE Select ENSP00000364204.3:n.960-71A>C
ENST00000321556.4:c.960-71A>C (PINK1) ENSP00000364204.3:n.960-71A>C
ENST00000492302.1:n.2048-71A>C (PINK1)
NM_032409.2:c.960-71A>C (PINK1) NP_115785.1:n.960-71A>C
NR_046507.1:n.3981+96T>G (PINK1-AS)
NM_032409.3:c.960-71A>C (PINK1) MANE Select NP_115785.1:n.960-71A>C