Canonical Allele Identifier: CA18956422
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1033401309
gnomAD v3: 1-20645227-G-A
gnomAD v4: 1-20645227-G-A
MyVariant Identifiers: chr1:g.20645227G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645227G>A , CM000663.2:g.20645227G>A GRCh38
NC_000001.10:g.20971720G>A , CM000663.1:g.20971720G>A GRCh37
NC_000001.9:g.20844307G>A NCBI36
NG_008164.1:g.16773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321556.5:c.960-333G>A (PINK1) MANE Select ENSP00000364204.3:n.960-333G>A
ENST00000321556.4:c.960-333G>A (PINK1) ENSP00000364204.3:n.960-333G>A
ENST00000492302.1:n.2048-333G>A (PINK1)
NM_032409.2:c.960-333G>A (PINK1) NP_115785.1:n.960-333G>A
NR_046507.1:n.3981+358C>T (PINK1-AS)
NM_032409.3:c.960-333G>A (PINK1) MANE Select NP_115785.1:n.960-333G>A