Canonical Allele Identifier: CA338836321
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20975009T>C (hg19) chr1:g.20648516T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648516T>C , CM000663.2:g.20648516T>C GRCh38
NC_000001.10:g.20975009T>C , CM000663.1:g.20975009T>C GRCh37
NC_000001.9:g.20847596T>C NCBI36
NG_008164.1:g.20062T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1135T>C (PINK1) MANE Select ENSP00000364204.3:p.Trp379Arg
ENST00000321556.4:c.1135T>C (PINK1) ENSP00000364204.3:p.Trp379Arg
ENST00000400490.2:n.228T>C (PINK1)
ENST00000492302.1:n.2223T>C (PINK1)
NM_032409.2:c.1135T>C (PINK1) NP_115785.1:p.Trp379Arg
NR_046507.1:n.3678A>G (PINK1-AS)
NM_032409.3:c.1135T>C (PINK1) MANE Select NP_115785.1:p.Trp379Arg
Search 100 bp 5'
Search 100 bp 3'