Canonical Allele Identifier: CA16611895

Gene: PRKN

Linked Data

• ClinVar Variation Id: 409269
• ClinVar RCV Id: RCV001304862
• dbSNP Id: rs1060502319
• gnomAD v2: 6-162622254-A-T
• gnomAD v4: 6-162201222-A-T
• MyVariant Identifiers: chr6:g.162622254A>T (hg19) ; chr6:g.162201222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162201222A>T , CM000668.2:g.162201222A>T	GRCh38
NC_000006.11:g.162622254A>T , CM000668.1:g.162622254A>T	GRCh37
NC_000006.10:g.162542244A>T	NCBI36
NG_008289.1:g.531581T>A
NG_008289.2:g.531581T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.412+61303T>A	ENSP00000343589.4:n.412+61303T>A
ENST00000366894.6:c.202T>A	ENSP00000355860.2:p.Cys68Ser
ENST00000366898.6:c.443T>A MANE Select	ENSP00000355865.1:p.Val148Glu
ENST00000673871.1:c.438T>A
ENST00000674232.1:n.461T>A
ENST00000674436.1:n.79T>A
ENST00000674501.1:n.550T>A
ENST00000338468.7:c.-40+61303T>A	ENSP00000343589.3:n.-40+61303T>A
ENST00000366892.5:c.443T>A	ENSP00000355858.1:p.Val148Glu
ENST00000366894.5:c.-131T>A	ENSP00000355860.1:n.-131T>A
ENST00000366896.5:c.172-227805T>A	ENSP00000355862.1:n.172-227805T>A
ENST00000366897.5:c.443T>A	ENSP00000355863.1:p.Val148Glu
ENST00000366898.5:c.443T>A	ENSP00000355865.1:p.Val148Glu
ENST00000479615.5:c.206T>A	ENSP00000434414.1:p.Val69Glu
NM_004562.2:c.443T>A	NP_004553.2:p.Val148Glu
NM_013987.2:c.443T>A	NP_054642.2:p.Val148Glu
NM_013988.2:c.172-227805T>A	NP_054643.2:n.172-227805T>A
XM_011535863.1:c.440T>A	XP_011534165.1:p.Val147Glu
XM_011535864.1:c.443T>A	XP_011534166.1:p.Val148Glu
XM_011535865.1:c.443T>A	XP_011534167.1:p.Val148Glu
XM_011535866.1:c.443T>A	XP_011534168.1:p.Val148Glu
XM_011535867.1:c.443T>A	XP_011534169.1:p.Val148Glu
XM_017010908.1:c.557T>A	XP_016866397.1:p.Val186Glu
XM_017010909.2:c.203T>A	XP_016866398.1:p.Val68Glu
XM_024446449.1:c.206T>A	XP_024302217.1:p.Val69Glu
XR_001743443.2:n.549T>A
NM_004562.3:c.443T>A MANE Select	NP_004553.2:p.Val148Glu
NM_013987.3:c.443T>A	NP_054642.2:p.Val148Glu
NM_013988.3:c.172-227805T>A	NP_054643.2:n.172-227805T>A