Canonical Allele Identifier: CA453046194
Gene: PRKN HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.161771149G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350117G>A , CM000668.2:g.161350117G>A GRCh38
NC_000006.11:g.161771149G>A , CM000668.1:g.161771149G>A GRCh37
NC_000006.10:g.161691139G>A NCBI36
NG_008289.1:g.1382686C>T
NG_008289.2:g.1382686C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.1258C>T ENSP00000343589.4:n.1258C>T
ENST00000366894.6:c.1139C>T ENSP00000355860.2:n.1139C>T
ENST00000366898.6:c.1380C>T MANE Select ENSP00000355865.1:p.Asp460=
ENST00000673871.1:c.1461C>T
ENST00000674006.1:n.765C>T
ENST00000674436.1:n.1016C>T
ENST00000338468.7:c.807C>T ENSP00000343589.3:p.Asp269=
ENST00000366894.5:c.807C>T ENSP00000355860.1:p.Asp269=
ENST00000366896.5:c.933C>T ENSP00000355862.1:p.Asp311=
ENST00000366897.5:c.1296C>T ENSP00000355863.1:p.Asp432=
ENST00000366898.5:c.1380C>T ENSP00000355865.1:p.Asp460=
ENST00000479615.5:c.*156C>T ENSP00000434414.1:n.*156C>T
ENST00000610470.4:c.513C>T ENSP00000483773.1:p.Asp171=
NM_004562.2:c.1380C>T NP_004553.2:p.Asp460=
NM_013987.2:c.1296C>T NP_054642.2:p.Asp432=
NM_013988.2:c.933C>T NP_054643.2:p.Asp311=
XM_011535863.1:c.1377C>T XP_011534165.1:p.Asp459=
XM_017010908.1:c.1494C>T XP_016866397.1:p.Asp498=
XM_017010909.2:c.1140C>T XP_016866398.1:p.Asp380=
XM_024446449.1:c.1143C>T XP_024302217.1:p.Asp381=
XR_001743443.2:n.1572C>T
NM_004562.3:c.1380C>T MANE Select NP_004553.2:p.Asp460=
NM_013987.3:c.1296C>T NP_054642.2:p.Asp432=
NM_013988.3:c.933C>T NP_054643.2:p.Asp311=