Canonical Allele Identifier: CA18956477
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs559882164
gnomAD v2: 1-20971809-C-G
gnomAD v3: 1-20645316-C-G
gnomAD v4: 1-20645316-C-G
MyVariant Identifiers: chr1:g.20971809C>G (hg19) chr1:g.20645316C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645316C>G , CM000663.2:g.20645316C>G GRCh38
NC_000001.10:g.20971809C>G , CM000663.1:g.20971809C>G GRCh37
NC_000001.9:g.20844396C>G NCBI36
NG_008164.1:g.16862C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-244C>G (PINK1) MANE Select ENSP00000364204.3:n.960-244C>G
ENST00000321556.4:c.960-244C>G (PINK1) ENSP00000364204.3:n.960-244C>G
ENST00000492302.1:n.2048-244C>G (PINK1)
NM_032409.2:c.960-244C>G (PINK1) NP_115785.1:n.960-244C>G
NR_046507.1:n.3981+269G>C (PINK1-AS)
NM_032409.3:c.960-244C>G (PINK1) MANE Select NP_115785.1:n.960-244C>G
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