Canonical Allele Identifier: CA416488699
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20972146C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20645653C>T , CM000663.2:g.20645653C>T GRCh38
NC_000001.10:g.20972146C>T , CM000663.1:g.20972146C>T GRCh37
NC_000001.9:g.20844733C>T NCBI36
NG_008164.1:g.17199C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1053C>T (PINK1) MANE Select ENSP00000364204.3:p.Asp351=
ENST00000321556.4:c.1053C>T (PINK1) ENSP00000364204.3:p.Asp351=
ENST00000400490.2:n.146C>T (PINK1)
ENST00000492302.1:n.2141C>T (PINK1)
NM_032409.2:c.1053C>T (PINK1) NP_115785.1:p.Asp351=
NR_046507.1:n.3913G>A (PINK1-AS)
NM_032409.3:c.1053C>T (PINK1) MANE Select NP_115785.1:p.Asp351=