Canonical Allele Identifier: CA660676
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

dbSNP Id: rs757669987
gnomAD v2: 1-20972144-G-A
gnomAD v3: 1-20645651-G-A
gnomAD v4: 1-20645651-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645651G>A , CM000663.2:g.20645651G>A GRCh38
NC_000001.10:g.20972144G>A , CM000663.1:g.20972144G>A GRCh37
NC_000001.9:g.20844731G>A NCBI36
NG_008164.1:g.17197G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1051G>A (PINK1) MANE Select ENSP00000364204.3:p.Asp351Asn
ENST00000321556.4:c.1051G>A (PINK1) ENSP00000364204.3:p.Asp351Asn
ENST00000400490.2:n.144G>A (PINK1)
ENST00000492302.1:n.2139G>A (PINK1)
NM_032409.2:c.1051G>A (PINK1) NP_115785.1:p.Asp351Asn
NR_046507.1:n.3915C>T (PINK1-AS)
NM_032409.3:c.1051G>A (PINK1) MANE Select NP_115785.1:p.Asp351Asn