Canonical Allele Identifier: CA4089925

Gene: PRKN

Linked Data

• dbSNP Id: rs751485437
• ExAC: 6:161771153 C / T
• gnomAD v2: 6-161771153-C-T
• gnomAD v3: 6-161350121-C-T
• gnomAD v4: 6-161350121-C-T
• MyVariant Identifiers: chr6:g.161771153C>T (hg19) ; chr6:g.161350121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350121C>T , CM000668.2:g.161350121C>T	GRCh38
NC_000006.11:g.161771153C>T , CM000668.1:g.161771153C>T	GRCh37
NC_000006.10:g.161691143C>T	NCBI36
NG_008289.1:g.1382682G>A
NG_008289.2:g.1382682G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1254G>A	ENSP00000343589.4:n.1254G>A
ENST00000366894.6:c.1135G>A	ENSP00000355860.2:n.1135G>A
ENST00000366898.6:c.1376G>A MANE Select	ENSP00000355865.1:p.Gly459Glu
ENST00000673871.1:c.1457G>A
ENST00000674006.1:n.761G>A
ENST00000674436.1:n.1012G>A
ENST00000338468.7:c.803G>A	ENSP00000343589.3:p.Gly268Glu
ENST00000366894.5:c.803G>A	ENSP00000355860.1:p.Gly268Glu
ENST00000366896.5:c.929G>A	ENSP00000355862.1:p.Gly310Glu
ENST00000366897.5:c.1292G>A	ENSP00000355863.1:p.Gly431Glu
ENST00000366898.5:c.1376G>A	ENSP00000355865.1:p.Gly459Glu
ENST00000479615.5:c.*152G>A	ENSP00000434414.1:n.*152G>A
ENST00000610470.4:c.509G>A	ENSP00000483773.1:p.Gly170Glu
NM_004562.2:c.1376G>A	NP_004553.2:p.Gly459Glu
NM_013987.2:c.1292G>A	NP_054642.2:p.Gly431Glu
NM_013988.2:c.929G>A	NP_054643.2:p.Gly310Glu
XM_011535863.1:c.1373G>A	XP_011534165.1:p.Gly458Glu
XM_017010908.1:c.1490G>A	XP_016866397.1:p.Gly497Glu
XM_017010909.2:c.1136G>A	XP_016866398.1:p.Gly379Glu
XM_024446449.1:c.1139G>A	XP_024302217.1:p.Gly380Glu
XR_001743443.2:n.1568G>A
NM_004562.3:c.1376G>A MANE Select	NP_004553.2:p.Gly459Glu
NM_013987.3:c.1292G>A	NP_054642.2:p.Gly431Glu
NM_013988.3:c.929G>A	NP_054643.2:p.Gly310Glu