Canonical Allele Identifier: CA366456363

Gene: PRKN

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350205C>T , CM000668.2:g.161350205C>T	GRCh38
NC_000006.11:g.161771237C>T , CM000668.1:g.161771237C>T	GRCh37
NC_000006.10:g.161691227C>T	NCBI36
NG_008289.1:g.1382598G>A
NG_008289.2:g.1382598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.1170G>A	ENSP00000343589.4:n.1170G>A
ENST00000366894.6:c.1051G>A	ENSP00000355860.2:n.1051G>A
ENST00000366898.6:c.1292G>A MANE Select	ENSP00000355865.1:p.Cys431Tyr
ENST00000673871.1:c.1373G>A
ENST00000674006.1:n.677G>A
ENST00000674436.1:n.928G>A
ENST00000338468.7:c.719G>A	ENSP00000343589.3:p.Cys240Tyr
ENST00000366894.5:c.719G>A	ENSP00000355860.1:p.Cys240Tyr
ENST00000366896.5:c.845G>A	ENSP00000355862.1:p.Cys282Tyr
ENST00000366897.5:c.1208G>A	ENSP00000355863.1:p.Cys403Tyr
ENST00000366898.5:c.1292G>A	ENSP00000355865.1:p.Cys431Tyr
ENST00000479615.5:c.*68G>A	ENSP00000434414.1:n.*68G>A
ENST00000610470.4:c.425G>A	ENSP00000483773.1:p.Cys142Tyr
NM_004562.2:c.1292G>A	NP_004553.2:p.Cys431Tyr
NM_013987.2:c.1208G>A	NP_054642.2:p.Cys403Tyr
NM_013988.2:c.845G>A	NP_054643.2:p.Cys282Tyr
XM_011535863.1:c.1289G>A	XP_011534165.1:p.Cys430Tyr
XM_017010908.1:c.1406G>A	XP_016866397.1:p.Cys469Tyr
XM_017010909.2:c.1052G>A	XP_016866398.1:p.Cys351Tyr
XM_024446449.1:c.1055G>A	XP_024302217.1:p.Cys352Tyr
XR_001743443.2:n.1484G>A
NM_004562.3:c.1292G>A MANE Select	NP_004553.2:p.Cys431Tyr
NM_013987.3:c.1208G>A	NP_054642.2:p.Cys403Tyr
NM_013988.3:c.845G>A	NP_054643.2:p.Cys282Tyr