Canonical Allele Identifier: CA4090262

Gene: PRKN

Linked Data

• ClinVar Variation Id: 447913
• ClinVar RCV Id: RCV000517145 ; RCV002289704 ; RCV001049281
• dbSNP Id: rs146173584
• ExAC: 6:162394341 C / T
• gnomAD v2: 6-162394341-C-T
• gnomAD v3: 6-161973309-C-T
• gnomAD v4: 6-161973309-C-T
• MyVariant Identifiers: chr6:g.162394341C>T (hg19) ; chr6:g.161973309C>T (hg38)
• PubMed: PMID:15729528 ; PMID:19351622 ; PMID:19946270 ; PMID:22233331 ; PMID:23727886

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161973309C>T , CM000668.2:g.161973309C>T	GRCh38
NC_000006.11:g.162394341C>T , CM000668.1:g.162394341C>T	GRCh37
NC_000006.10:g.162314331C>T	NCBI36
NG_008289.1:g.759494G>A
NG_008289.2:g.759494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.605G>A	ENSP00000343589.4:n.605G>A
ENST00000366894.6:c.486G>A	ENSP00000355860.2:n.486G>A
ENST00000366898.6:c.727G>A MANE Select	ENSP00000355865.1:p.Asp243Asn
ENST00000673871.1:c.722G>A
ENST00000674232.1:n.745G>A
ENST00000674436.1:n.363G>A
ENST00000674501.1:n.834G>A
ENST00000338468.7:c.154G>A	ENSP00000343589.3:p.Asp52Asn
ENST00000366892.5:c.727G>A	ENSP00000355858.1:p.Asp243Asn
ENST00000366894.5:c.154G>A	ENSP00000355860.1:p.Asp52Asn
ENST00000366896.5:c.280G>A	ENSP00000355862.1:p.Asp94Asn
ENST00000366897.5:c.643G>A	ENSP00000355863.1:p.Asp215Asn
ENST00000366898.5:c.727G>A	ENSP00000355865.1:p.Asp243Asn
ENST00000479615.5:c.490G>A	ENSP00000434414.1:p.Asp164Asn
NM_004562.2:c.727G>A	NP_004553.2:p.Asp243Asn
NM_013987.2:c.643G>A	NP_054642.2:p.Asp215Asn
NM_013988.2:c.280G>A	NP_054643.2:p.Asp94Asn
XM_011535863.1:c.724G>A	XP_011534165.1:p.Asp242Asn
XM_011535864.1:c.727G>A	XP_011534166.1:p.Asp243Asn
XM_011535865.1:c.727G>A	XP_011534167.1:p.Asp243Asn
XM_011535866.1:c.727G>A	XP_011534168.1:p.Asp243Asn
XM_011535867.1:c.727G>A	XP_011534169.1:p.Asp243Asn
XM_017010908.1:c.841G>A	XP_016866397.1:p.Asp281Asn
XM_017010909.2:c.487G>A	XP_016866398.1:p.Asp163Asn
XM_024446449.1:c.490G>A	XP_024302217.1:p.Asp164Asn
XR_001743443.2:n.833G>A
NM_004562.3:c.727G>A MANE Select	NP_004553.2:p.Asp243Asn
NM_013987.3:c.643G>A	NP_054642.2:p.Asp215Asn
NM_013988.3:c.280G>A	NP_054643.2:p.Asp94Asn