Canonical Allele Identifier: CA366456129

Gene: PRKN

Linked Data

• gnomAD v4: 6-161350105-G-T
• MyVariant Identifiers: chr6:g.161771137G>T (hg19) ; chr6:g.161350105G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350105G>T , CM000668.2:g.161350105G>T	GRCh38
NC_000006.11:g.161771137G>T , CM000668.1:g.161771137G>T	GRCh37
NC_000006.10:g.161691127G>T	NCBI36
NG_008289.1:g.1382698C>A
NG_008289.2:g.1382698C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1270C>A	ENSP00000343589.4:n.1270C>A
ENST00000366894.6:c.1151C>A	ENSP00000355860.2:n.1151C>A
ENST00000366898.6:c.1392C>A MANE Select	ENSP00000355865.1:p.Asp464Glu
ENST00000673871.1:c.1473C>A
ENST00000674006.1:n.777C>A
ENST00000674436.1:n.1028C>A
ENST00000338468.7:c.819C>A	ENSP00000343589.3:p.Asp273Glu
ENST00000366894.5:c.819C>A	ENSP00000355860.1:p.Asp273Glu
ENST00000366896.5:c.945C>A	ENSP00000355862.1:p.Asp315Glu
ENST00000366897.5:c.1308C>A	ENSP00000355863.1:p.Asp436Glu
ENST00000366898.5:c.1392C>A	ENSP00000355865.1:p.Asp464Glu
ENST00000479615.5:c.*168C>A	ENSP00000434414.1:n.*168C>A
ENST00000610470.4:c.525C>A	ENSP00000483773.1:p.Asp175Glu
NM_004562.2:c.1392C>A	NP_004553.2:p.Asp464Glu
NM_013987.2:c.1308C>A	NP_054642.2:p.Asp436Glu
NM_013988.2:c.945C>A	NP_054643.2:p.Asp315Glu
XM_011535863.1:c.1389C>A	XP_011534165.1:p.Asp463Glu
XM_017010908.1:c.1506C>A	XP_016866397.1:p.Asp502Glu
XM_017010909.2:c.1152C>A	XP_016866398.1:p.Asp384Glu
XM_024446449.1:c.1155C>A	XP_024302217.1:p.Asp385Glu
XR_001743443.2:n.1584C>A
NM_004562.3:c.1392C>A MANE Select	NP_004553.2:p.Asp464Glu
NM_013987.3:c.1308C>A	NP_054642.2:p.Asp436Glu
NM_013988.3:c.945C>A	NP_054643.2:p.Asp315Glu