Canonical Allele Identifier: CA254085
Gene: PRKN HGNC NCBI

Linked Data

ClinVar Variation Id: 7047
dbSNP Id: rs137853059

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443314A>T , CM000668.2:g.162443314A>T GRCh38
NC_000006.11:g.162864346A>T , CM000668.1:g.162864346A>T GRCh37
NC_000006.10:g.162784336A>T NCBI36
NG_008289.1:g.289489T>A
NG_008289.2:g.289489T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.167T>A ENSP00000343589.4:p.Val56Glu
ENST00000366894.6:c.167T>A ENSP00000355860.2:p.Val56Glu
ENST00000366898.6:c.167T>A MANE Select ENSP00000355865.1:p.Val56Glu
ENST00000648830.1:n.334T>A
ENST00000673871.1:c.162T>A
ENST00000674232.1:n.185T>A
ENST00000674259.1:n.224T>A
ENST00000674493.1:n.184T>A
ENST00000674501.1:n.274T>A
ENST00000338468.7:c.-285T>A ENSP00000343589.3:n.-285T>A
ENST00000366892.5:c.167T>A ENSP00000355858.1:p.Val56Glu
ENST00000366894.5:c.-166T>A ENSP00000355860.1:n.-166T>A
ENST00000366896.5:c.167T>A ENSP00000355862.1:p.Val56Glu
ENST00000366897.5:c.167T>A ENSP00000355863.1:p.Val56Glu
ENST00000366898.5:c.167T>A ENSP00000355865.1:p.Val56Glu
ENST00000479615.5:c.-66-180549T>A ENSP00000434414.1:n.-66-180549T>A
NM_004562.2:c.167T>A NP_004553.2:p.Val56Glu
NM_013987.2:c.167T>A NP_054642.2:p.Val56Glu
NM_013988.2:c.167T>A NP_054643.2:p.Val56Glu
XM_011535863.1:c.167T>A XP_011534165.1:p.Val56Glu
XM_011535864.1:c.167T>A XP_011534166.1:p.Val56Glu
XM_011535865.1:c.167T>A XP_011534167.1:p.Val56Glu
XM_011535866.1:c.167T>A XP_011534168.1:p.Val56Glu
XM_011535867.1:c.167T>A XP_011534169.1:p.Val56Glu
XM_017010908.1:c.281T>A XP_016866397.1:p.Val94Glu
XM_017010909.2:c.-66-180549T>A XP_016866398.1:n.-66-180549T>A
XM_024446449.1:c.-66-180549T>A XP_024302217.1:n.-66-180549T>A
XR_001743443.2:n.273T>A
NM_004562.3:c.167T>A MANE Select NP_004553.2:p.Val56Glu
NM_013987.3:c.167T>A NP_054642.2:p.Val56Glu
NM_013988.3:c.167T>A NP_054643.2:p.Val56Glu