Canonical Allele Identifier: CA416489633
Gene: PINK1 HGNC NCBI
PINK1-AS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.20974951A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.20648458A>C , CM000663.2:g.20648458A>C GRCh38
NC_000001.10:g.20974951A>C , CM000663.1:g.20974951A>C GRCh37
NC_000001.9:g.20847538A>C NCBI36
NG_008164.1:g.20004A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321556.5:c.1124-47A>C (PINK1) MANE Select ENSP00000364204.3:n.1124-47A>C
ENST00000321556.4:c.1124-47A>C (PINK1) ENSP00000364204.3:n.1124-47A>C
ENST00000400490.2:n.217-47A>C (PINK1)
ENST00000492302.1:n.2212-47A>C (PINK1)
NM_032409.2:c.1124-47A>C (PINK1) NP_115785.1:n.1124-47A>C
NR_046507.1:n.3736T>G (PINK1-AS)
NM_032409.3:c.1124-47A>C (PINK1) MANE Select NP_115785.1:n.1124-47A>C