Canonical Allele Identifier: CA263212
Gene: PRKN HGNC NCBI

Linked Data

ClinVar Variation Id: 50354
ClinVar RCV Id: RCV000043509
dbSNP Id: rs397514694

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350205C>A , CM000668.2:g.161350205C>A GRCh38
NC_000006.11:g.161771237C>A , CM000668.1:g.161771237C>A GRCh37
NC_000006.10:g.161691227C>A NCBI36
NG_008289.1:g.1382598G>T
NG_008289.2:g.1382598G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:n.1170G>T ENSP00000343589.4:n.1170G>T
ENST00000366894.6:n.1051G>T ENSP00000355860.2:n.1051G>T
ENST00000366898.6:c.1292G>T MANE Select ENSP00000355865.1:p.Cys431Phe
ENST00000673871.1:n.1373G>T
ENST00000674006.1:n.677G>T
ENST00000674436.1:n.928G>T
ENST00000338468.7:c.719G>T ENSP00000343589.3:p.Cys240Phe
ENST00000366894.5:c.719G>T ENSP00000355860.1:p.Cys240Phe
ENST00000366896.5:c.845G>T ENSP00000355862.1:p.Cys282Phe
ENST00000366897.5:c.1208G>T ENSP00000355863.1:p.Cys403Phe
ENST00000366898.5:c.1292G>T ENSP00000355865.1:p.Cys431Phe
ENST00000479615.5:c.*68G>T ENSP00000434414.1:n.*68G>T
ENST00000610470.4:n.425G>T ENSP00000483773.1:p.Cys142Phe
NM_004562.2:c.1292G>T NP_004553.2:p.Cys431Phe
NM_013987.2:c.1208G>T NP_054642.2:p.Cys403Phe
NM_013988.2:c.845G>T NP_054643.2:p.Cys282Phe
XM_011535863.1:c.1289G>T XP_011534165.1:p.Cys430Phe
XM_017010908.1:c.1406G>T XP_016866397.1:p.Cys469Phe
XM_017010909.2:c.1052G>T XP_016866398.1:p.Cys351Phe
XM_024446449.1:c.1055G>T XP_024302217.1:p.Cys352Phe
XR_001743443.2:n.1484G>T
NM_004562.3:c.1292G>T MANE Select NP_004553.2:p.Cys431Phe
NM_013987.3:c.1208G>T NP_054642.2:p.Cys403Phe
NM_013988.3:c.845G>T NP_054643.2:p.Cys282Phe