Canonical Allele Identifier: CA366456162
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350117G>T , CM000668.2:g.161350117G>T GRCh38
NC_000006.11:g.161771149G>T , CM000668.1:g.161771149G>T GRCh37
NC_000006.10:g.161691139G>T NCBI36
NG_008289.1:g.1382686C>A
NG_008289.2:g.1382686C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.1258C>A ENSP00000343589.4:n.1258C>A
ENST00000366894.6:c.1139C>A ENSP00000355860.2:n.1139C>A
ENST00000366898.6:c.1380C>A MANE Select ENSP00000355865.1:p.Asp460Glu
ENST00000673871.1:c.1461C>A
ENST00000674006.1:n.765C>A
ENST00000674436.1:n.1016C>A
ENST00000338468.7:c.807C>A ENSP00000343589.3:p.Asp269Glu
ENST00000366894.5:c.807C>A ENSP00000355860.1:p.Asp269Glu
ENST00000366896.5:c.933C>A ENSP00000355862.1:p.Asp311Glu
ENST00000366897.5:c.1296C>A ENSP00000355863.1:p.Asp432Glu
ENST00000366898.5:c.1380C>A ENSP00000355865.1:p.Asp460Glu
ENST00000479615.5:c.*156C>A ENSP00000434414.1:n.*156C>A
ENST00000610470.4:c.513C>A ENSP00000483773.1:p.Asp171Glu
NM_004562.2:c.1380C>A NP_004553.2:p.Asp460Glu
NM_013987.2:c.1296C>A NP_054642.2:p.Asp432Glu
NM_013988.2:c.933C>A NP_054643.2:p.Asp311Glu
XM_011535863.1:c.1377C>A XP_011534165.1:p.Asp459Glu
XM_017010908.1:c.1494C>A XP_016866397.1:p.Asp498Glu
XM_017010909.2:c.1140C>A XP_016866398.1:p.Asp380Glu
XM_024446449.1:c.1143C>A XP_024302217.1:p.Asp381Glu
XR_001743443.2:n.1572C>A
NM_004562.3:c.1380C>A MANE Select NP_004553.2:p.Asp460Glu
NM_013987.3:c.1296C>A NP_054642.2:p.Asp432Glu
NM_013988.3:c.933C>A NP_054643.2:p.Asp311Glu