Canonical Allele Identifier: CA254081
Gene: PRKN HGNC NCBI

Linked Data

ClinVar Variation Id: 7042
ClinVar RCV Id: RCV000007458 RCV000762443
dbSNP Id: rs137853056
gnomAD v4: 6-161350139-C-T
MyVariant Identifiers: chr6:g.161771171C>T (hg19) chr6:g.161350139C>T (hg38)
PubMed: PMID:10072423 PMID:16049031
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350139C>T , CM000668.2:g.161350139C>T GRCh38
NC_000006.11:g.161771171C>T , CM000668.1:g.161771171C>T GRCh37
NC_000006.10:g.161691161C>T NCBI36
NG_008289.1:g.1382664G>A
NG_008289.2:g.1382664G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.1236G>A ENSP00000343589.4:n.1236G>A
ENST00000366894.6:c.1117G>A ENSP00000355860.2:n.1117G>A
ENST00000366898.6:c.1358G>A MANE Select ENSP00000355865.1:p.Trp453Ter
ENST00000673871.1:c.1439G>A
ENST00000674006.1:n.743G>A
ENST00000674436.1:n.994G>A
ENST00000338468.7:c.785G>A ENSP00000343589.3:p.Trp262Ter
ENST00000366894.5:c.785G>A ENSP00000355860.1:p.Trp262Ter
ENST00000366896.5:c.911G>A ENSP00000355862.1:p.Trp304Ter
ENST00000366897.5:c.1274G>A ENSP00000355863.1:p.Trp425Ter
ENST00000366898.5:c.1358G>A ENSP00000355865.1:p.Trp453Ter
ENST00000479615.5:c.*134G>A ENSP00000434414.1:n.*134G>A
ENST00000610470.4:c.491G>A ENSP00000483773.1:p.Trp164Ter
NM_004562.2:c.1358G>A NP_004553.2:p.Trp453Ter
NM_013987.2:c.1274G>A NP_054642.2:p.Trp425Ter
NM_013988.2:c.911G>A NP_054643.2:p.Trp304Ter
XM_011535863.1:c.1355G>A XP_011534165.1:p.Trp452Ter
XM_017010908.1:c.1472G>A XP_016866397.1:p.Trp491Ter
XM_017010909.2:c.1118G>A XP_016866398.1:p.Trp373Ter
XM_024446449.1:c.1121G>A XP_024302217.1:p.Trp374Ter
XR_001743443.2:n.1550G>A
NM_004562.3:c.1358G>A MANE Select NP_004553.2:p.Trp453Ter
NM_013987.3:c.1274G>A NP_054642.2:p.Trp425Ter
NM_013988.3:c.911G>A NP_054643.2:p.Trp304Ter
Search 100 bp 5'
Search 100 bp 3'