Canonical Allele Identifier: CA254089
Gene: PRKN HGNC NCBI

Linked Data

ClinVar Variation Id: 7054
dbSNP Id: rs137853054

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161973317G>A , CM000668.2:g.161973317G>A GRCh38
NC_000006.11:g.162394349G>A , CM000668.1:g.162394349G>A GRCh37
NC_000006.10:g.162314339G>A NCBI36
NG_008289.1:g.759486C>T
NG_008289.2:g.759486C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.597C>T ENSP00000343589.4:n.597C>T
ENST00000366894.6:c.478C>T ENSP00000355860.2:n.478C>T
ENST00000366898.6:c.719C>T MANE Select ENSP00000355865.1:p.Thr240Met
ENST00000673871.1:c.714C>T
ENST00000674232.1:n.737C>T
ENST00000674436.1:n.355C>T
ENST00000674501.1:n.826C>T
ENST00000338468.7:c.146C>T ENSP00000343589.3:p.Thr49Met
ENST00000366892.5:c.719C>T ENSP00000355858.1:p.Thr240Met
ENST00000366894.5:c.146C>T ENSP00000355860.1:p.Thr49Met
ENST00000366896.5:c.272C>T ENSP00000355862.1:p.Thr91Met
ENST00000366897.5:c.635C>T ENSP00000355863.1:p.Thr212Met
ENST00000366898.5:c.719C>T ENSP00000355865.1:p.Thr240Met
ENST00000479615.5:c.482C>T ENSP00000434414.1:p.Thr161Met
NM_004562.2:c.719C>T NP_004553.2:p.Thr240Met
NM_013987.2:c.635C>T NP_054642.2:p.Thr212Met
NM_013988.2:c.272C>T NP_054643.2:p.Thr91Met
XM_011535863.1:c.716C>T XP_011534165.1:p.Thr239Met
XM_011535864.1:c.719C>T XP_011534166.1:p.Thr240Met
XM_011535865.1:c.719C>T XP_011534167.1:p.Thr240Met
XM_011535866.1:c.719C>T XP_011534168.1:p.Thr240Met
XM_011535867.1:c.719C>T XP_011534169.1:p.Thr240Met
XM_017010908.1:c.833C>T XP_016866397.1:p.Thr278Met
XM_017010909.2:c.479C>T XP_016866398.1:p.Thr160Met
XM_024446449.1:c.482C>T XP_024302217.1:p.Thr161Met
XR_001743443.2:n.825C>T
NM_004562.3:c.719C>T MANE Select NP_004553.2:p.Thr240Met
NM_013987.3:c.635C>T NP_054642.2:p.Thr212Met
NM_013988.3:c.272C>T NP_054643.2:p.Thr91Met