Canonical Allele Identifier: CA366456133
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350107C>A , CM000668.2:g.161350107C>A GRCh38
NC_000006.11:g.161771139C>A , CM000668.1:g.161771139C>A GRCh37
NC_000006.10:g.161691129C>A NCBI36
NG_008289.1:g.1382696G>T
NG_008289.2:g.1382696G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.1268G>T ENSP00000343589.4:n.1268G>T
ENST00000366894.6:c.1149G>T ENSP00000355860.2:n.1149G>T
ENST00000366898.6:c.1390G>T MANE Select ENSP00000355865.1:p.Asp464Tyr
ENST00000673871.1:c.1471G>T
ENST00000674006.1:n.775G>T
ENST00000674436.1:n.1026G>T
ENST00000338468.7:c.817G>T ENSP00000343589.3:p.Asp273Tyr
ENST00000366894.5:c.817G>T ENSP00000355860.1:p.Asp273Tyr
ENST00000366896.5:c.943G>T ENSP00000355862.1:p.Asp315Tyr
ENST00000366897.5:c.1306G>T ENSP00000355863.1:p.Asp436Tyr
ENST00000366898.5:c.1390G>T ENSP00000355865.1:p.Asp464Tyr
ENST00000479615.5:c.*166G>T ENSP00000434414.1:n.*166G>T
ENST00000610470.4:c.523G>T ENSP00000483773.1:p.Asp175Tyr
NM_004562.2:c.1390G>T NP_004553.2:p.Asp464Tyr
NM_013987.2:c.1306G>T NP_054642.2:p.Asp436Tyr
NM_013988.2:c.943G>T NP_054643.2:p.Asp315Tyr
XM_011535863.1:c.1387G>T XP_011534165.1:p.Asp463Tyr
XM_017010908.1:c.1504G>T XP_016866397.1:p.Asp502Tyr
XM_017010909.2:c.1150G>T XP_016866398.1:p.Asp384Tyr
XM_024446449.1:c.1153G>T XP_024302217.1:p.Asp385Tyr
XR_001743443.2:n.1582G>T
NM_004562.3:c.1390G>T MANE Select NP_004553.2:p.Asp464Tyr
NM_013987.3:c.1306G>T NP_054642.2:p.Asp436Tyr
NM_013988.3:c.943G>T NP_054643.2:p.Asp315Tyr