Canonical Allele Identifier: CA338833090
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20972073A>C (hg19) chr1:g.20645580A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645580A>C , CM000663.2:g.20645580A>C GRCh38
NC_000001.10:g.20972073A>C , CM000663.1:g.20972073A>C GRCh37
NC_000001.9:g.20844660A>C NCBI36
NG_008164.1:g.17126A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.980A>C (PINK1) MANE Select ENSP00000364204.3:p.Gln327Pro
ENST00000321556.4:c.980A>C (PINK1) ENSP00000364204.3:p.Gln327Pro
ENST00000400490.2:n.73A>C (PINK1)
ENST00000492302.1:n.2068A>C (PINK1)
NM_032409.2:c.980A>C (PINK1) NP_115785.1:p.Gln327Pro
NR_046507.1:n.3981+5T>G (PINK1-AS)
NM_032409.3:c.980A>C (PINK1) MANE Select NP_115785.1:p.Gln327Pro
Search 100 bp 5'
Search 100 bp 3'