Canonical Allele Identifier: CA416489993
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20975071C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648578C>A , CM000663.2:g.20648578C>A GRCh38
NC_000001.10:g.20975071C>A , CM000663.1:g.20975071C>A GRCh37
NC_000001.9:g.20847658C>A NCBI36
NG_008164.1:g.20124C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1197C>A (PINK1) MANE Select ENSP00000364204.3:p.Pro399=
ENST00000321556.4:c.1197C>A (PINK1) ENSP00000364204.3:p.Pro399=
ENST00000400490.2:n.290C>A (PINK1)
ENST00000492302.1:n.2285C>A (PINK1)
NM_032409.2:c.1197C>A (PINK1) NP_115785.1:p.Pro399=
NR_046507.1:n.3616G>T (PINK1-AS)
NM_032409.3:c.1197C>A (PINK1) MANE Select NP_115785.1:p.Pro399=