Canonical Allele Identifier: CA1677891122
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162201137C= , CM000668.2:g.162201137C= GRCh38
NC_000006.11:g.162622169C= , CM000668.1:g.162622169C= GRCh37
NC_000006.10:g.162542159C= NCBI36
NG_008289.1:g.531666G=
NG_008289.2:g.531666G=

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.412+61388G= ENSP00000343589.4:n.412+61388G=
ENST00000366894.6:c.287G= ENSP00000355860.2:p.Ter96=
ENST00000366898.6:c.528G= MANE Select ENSP00000355865.1:p.Leu176=
ENST00000673871.1:c.523G=
ENST00000674232.1:n.546G=
ENST00000674436.1:n.164G=
ENST00000674501.1:n.635G=
ENST00000338468.7:c.-40+61388G= ENSP00000343589.3:n.-40+61388G=
ENST00000366892.5:c.528G= ENSP00000355858.1:p.Leu176=
ENST00000366894.5:c.-46G= ENSP00000355860.1:n.-46G=
ENST00000366896.5:c.172-227720G= ENSP00000355862.1:n.172-227720G=
ENST00000366897.5:c.528G= ENSP00000355863.1:p.Leu176=
ENST00000366898.5:c.528G= ENSP00000355865.1:p.Leu176=
ENST00000479615.5:c.291G= ENSP00000434414.1:p.Leu97=
NM_004562.2:c.528G= NP_004553.2:p.Leu176=
NM_013987.2:c.528G= NP_054642.2:p.Leu176=
NM_013988.2:c.172-227720G= NP_054643.2:n.172-227720G=
XM_011535863.1:c.525G= XP_011534165.1:p.Leu175=
XM_011535864.1:c.528G= XP_011534166.1:p.Leu176=
XM_011535865.1:c.528G= XP_011534167.1:p.Leu176=
XM_011535866.1:c.528G= XP_011534168.1:p.Leu176=
XM_011535867.1:c.528G= XP_011534169.1:p.Leu176=
XM_017010908.1:c.642G= XP_016866397.1:p.Leu214=
XM_017010909.2:c.288G= XP_016866398.1:p.Leu96=
XM_024446449.1:c.291G= XP_024302217.1:p.Leu97=
XR_001743443.2:n.634G=
NM_004562.3:c.528G= MANE Select NP_004553.2:p.Leu176=
NM_013987.3:c.528G= NP_054642.2:p.Leu176=
NM_013988.3:c.172-227720G= NP_054643.2:n.172-227720G=