Canonical Allele Identifier: CA338833948
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs2053171048
gnomAD v3: 1-20645669-G-T
gnomAD v4: 1-20645669-G-T
MyVariant Identifiers: chr1:g.20972162G>T (hg19) chr1:g.20645669G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645669G>T , CM000663.2:g.20645669G>T GRCh38
NC_000001.10:g.20972162G>T , CM000663.1:g.20972162G>T GRCh37
NC_000001.9:g.20844749G>T NCBI36
NG_008164.1:g.17215G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1069G>T (PINK1) MANE Select ENSP00000364204.3:p.Gly357Cys
ENST00000321556.4:c.1069G>T (PINK1) ENSP00000364204.3:p.Gly357Cys
ENST00000400490.2:n.162G>T (PINK1)
ENST00000492302.1:n.2157G>T (PINK1)
NM_032409.2:c.1069G>T (PINK1) NP_115785.1:p.Gly357Cys
NR_046507.1:n.3897C>A (PINK1-AS)
NM_032409.3:c.1069G>T (PINK1) MANE Select NP_115785.1:p.Gly357Cys
Search 100 bp 5'
Search 100 bp 3'