Canonical Allele Identifier: CA254078
Gene: PRKN HGNC NCBI

Linked Data

ClinVar Variation Id: 7037
ClinVar RCV Id: RCV000007453
dbSNP Id: rs137853055
MyVariant Identifiers: chr6:g.161990389G>A (hg19) chr6:g.161569357G>A (hg38)
PubMed: PMID:9731209 PMID:16049031
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161569357G>A , CM000668.2:g.161569357G>A GRCh38
NC_000006.11:g.161990389G>A , CM000668.1:g.161990389G>A GRCh37
NC_000006.10:g.161910379G>A NCBI36
NG_008289.1:g.1163446C>T
NG_008289.2:g.1163446C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.809C>T ENSP00000343589.4:n.809C>T
ENST00000366894.6:c.690C>T ENSP00000355860.2:n.690C>T
ENST00000366898.6:c.931C>T MANE Select ENSP00000355865.1:p.Gln311Ter
ENST00000673871.1:c.926C>T
ENST00000674006.1:n.316C>T
ENST00000674436.1:n.567C>T
ENST00000674501.1:n.1038C>T
ENST00000338468.7:c.358C>T ENSP00000343589.3:p.Gln120Ter
ENST00000366892.5:c.931C>T ENSP00000355858.1:p.Gln311Ter
ENST00000366894.5:c.358C>T ENSP00000355860.1:p.Gln120Ter
ENST00000366896.5:c.484C>T ENSP00000355862.1:p.Gln162Ter
ENST00000366897.5:c.847C>T ENSP00000355863.1:p.Gln283Ter
ENST00000366898.5:c.931C>T ENSP00000355865.1:p.Gln311Ter
ENST00000479615.5:c.635-182480C>T ENSP00000434414.1:n.635-182480C>T
ENST00000610470.4:c.64C>T ENSP00000483773.1:p.Gln22Ter
ENST00000612485.1:c.61C>T ENSP00000480716.1:p.Gln21Ter
NM_004562.2:c.931C>T NP_004553.2:p.Gln311Ter
NM_013987.2:c.847C>T NP_054642.2:p.Gln283Ter
NM_013988.2:c.484C>T NP_054643.2:p.Gln162Ter
XM_011535863.1:c.928C>T XP_011534165.1:p.Gln310Ter
XM_011535864.1:c.931C>T XP_011534166.1:p.Gln311Ter
XM_011535865.1:c.931C>T XP_011534167.1:p.Gln311Ter
XM_017010908.1:c.1045C>T XP_016866397.1:p.Gln349Ter
XM_017010909.2:c.691C>T XP_016866398.1:p.Gln231Ter
XM_024446449.1:c.694C>T XP_024302217.1:p.Gln232Ter
XR_001743443.2:n.1037C>T
NM_004562.3:c.931C>T MANE Select NP_004553.2:p.Gln311Ter
NM_013987.3:c.847C>T NP_054642.2:p.Gln283Ter
NM_013988.3:c.484C>T NP_054643.2:p.Gln162Ter
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