Canonical Allele Identifier: CA18956523
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs928992689
gnomAD v3: 1-20645440-G-C
gnomAD v4: 1-20645440-G-C
MyVariant Identifiers: chr1:g.20971933G>C (hg19) chr1:g.20645440G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645440G>C , CM000663.2:g.20645440G>C GRCh38
NC_000001.10:g.20971933G>C , CM000663.1:g.20971933G>C GRCh37
NC_000001.9:g.20844520G>C NCBI36
NG_008164.1:g.16986G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.960-120G>C (PINK1) MANE Select ENSP00000364204.3:n.960-120G>C
ENST00000321556.4:c.960-120G>C (PINK1) ENSP00000364204.3:n.960-120G>C
ENST00000492302.1:n.2048-120G>C (PINK1)
NM_032409.2:c.960-120G>C (PINK1) NP_115785.1:n.960-120G>C
NR_046507.1:n.3981+145C>G (PINK1-AS)
NM_032409.3:c.960-120G>C (PINK1) MANE Select NP_115785.1:n.960-120G>C
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