Canonical Allele Identifier: CA338833051
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20972064C>A (hg19) chr1:g.20645571C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645571C>A , CM000663.2:g.20645571C>A GRCh38
NC_000001.10:g.20972064C>A , CM000663.1:g.20972064C>A GRCh37
NC_000001.9:g.20844651C>A NCBI36
NG_008164.1:g.17117C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.971C>A (PINK1) MANE Select ENSP00000364204.3:p.Thr324Asn
ENST00000321556.4:c.971C>A (PINK1) ENSP00000364204.3:p.Thr324Asn
ENST00000400490.2:n.64C>A (PINK1)
ENST00000492302.1:n.2059C>A (PINK1)
NM_032409.2:c.971C>A (PINK1) NP_115785.1:p.Thr324Asn
NR_046507.1:n.3981+14G>T (PINK1-AS)
NM_032409.3:c.971C>A (PINK1) MANE Select NP_115785.1:p.Thr324Asn
Search 100 bp 5'
Search 100 bp 3'