Canonical Allele Identifier: CA1677783334
Gene: PRKN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004562.3:c.719C= MANE Select NP_004553.2:p.Thr240=
ENST00000366898.6:c.719C= MANE Select ENSP00000355865.1:p.Thr240=
NM_004562.2:c.719C= NP_004553.2:p.Thr240=
NM_013987.2:c.635C= NP_054642.2:p.Thr212=
NM_013987.3:c.635C= NP_054642.2:p.Thr212=
NM_013988.2:c.272C= NP_054643.2:p.Thr91=
NM_013988.3:c.272C= NP_054643.2:p.Thr91=
ENST00000338468.7:c.146C= ENSP00000343589.3:p.Thr49=
ENST00000338468.8:c.597C= ENSP00000343589.4:n.597C=
ENST00000366892.5:c.719C= ENSP00000355858.1:p.Thr240=
ENST00000366894.5:c.146C= ENSP00000355860.1:p.Thr49=
ENST00000366894.6:c.478C= ENSP00000355860.2:n.478C=
ENST00000366896.5:c.272C= ENSP00000355862.1:p.Thr91=
ENST00000366897.5:c.635C= ENSP00000355863.1:p.Thr212=
ENST00000366898.5:c.719C= ENSP00000355865.1:p.Thr240=
ENST00000479615.5:c.482C= ENSP00000434414.1:p.Thr161=
ENST00000673871.1:c.714C=
ENST00000674232.1:n.737C=
ENST00000674436.1:n.355C=
ENST00000674501.1:n.826C=
XM_011535863.1:c.716C= XP_011534165.1:p.Thr239=
XM_011535864.1:c.719C= XP_011534166.1:p.Thr240=
XM_011535865.1:c.719C= XP_011534167.1:p.Thr240=
XM_011535866.1:c.719C= XP_011534168.1:p.Thr240=
XM_011535867.1:c.719C= XP_011534169.1:p.Thr240=
XM_017010908.1:c.833C= XP_016866397.1:p.Thr278=
XM_017010909.2:c.479C= XP_016866398.1:p.Thr160=
XM_024446449.1:c.482C= XP_024302217.1:p.Thr161=
XR_001743443.2:n.825C=