Canonical Allele Identifier: CA660719
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs548701521
ExAC: 1:20975020 C / A
gnomAD v2: 1-20975020-C-A
gnomAD v3: 1-20648527-C-A
gnomAD v4: 1-20648527-C-A
MyVariant Identifiers: chr1:g.20975020C>A (hg19) chr1:g.20648527C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648527C>A , CM000663.2:g.20648527C>A GRCh38
NC_000001.10:g.20975020C>A , CM000663.1:g.20975020C>A GRCh37
NC_000001.9:g.20847607C>A NCBI36
NG_008164.1:g.20073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.1146C>A (PINK1) MANE Select ENSP00000364204.3:p.Ile382=
ENST00000321556.4:c.1146C>A (PINK1) ENSP00000364204.3:p.Ile382=
ENST00000400490.2:n.239C>A (PINK1)
ENST00000492302.1:n.2234C>A (PINK1)
NM_032409.2:c.1146C>A (PINK1) NP_115785.1:p.Ile382=
NR_046507.1:n.3667G>T (PINK1-AS)
NM_032409.3:c.1146C>A (PINK1) MANE Select NP_115785.1:p.Ile382=
Search 100 bp 5'
Search 100 bp 3'