Canonical Allele Identifier: CA4089932

Gene: PRKN

Linked Data

• dbSNP Id: rs755354082
• ExAC: 6:161771175 C / G
• gnomAD v2: 6-161771175-C-G
• gnomAD v3: 6-161350143-C-G
• gnomAD v4: 6-161350143-C-G
• MyVariant Identifiers: chr6:g.161771175C>G (hg19) ; chr6:g.161350143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350143C>G , CM000668.2:g.161350143C>G	GRCh38
NC_000006.11:g.161771175C>G , CM000668.1:g.161771175C>G	GRCh37
NC_000006.10:g.161691165C>G	NCBI36
NG_008289.1:g.1382660G>C
NG_008289.2:g.1382660G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1232G>C	ENSP00000343589.4:n.1232G>C
ENST00000366894.6:c.1113G>C	ENSP00000355860.2:n.1113G>C
ENST00000366898.6:c.1354G>C MANE Select	ENSP00000355865.1:p.Glu452Gln
ENST00000673871.1:c.1435G>C
ENST00000674006.1:n.739G>C
ENST00000674436.1:n.990G>C
ENST00000338468.7:c.781G>C	ENSP00000343589.3:p.Glu261Gln
ENST00000366894.5:c.781G>C	ENSP00000355860.1:p.Glu261Gln
ENST00000366896.5:c.907G>C	ENSP00000355862.1:p.Glu303Gln
ENST00000366897.5:c.1270G>C	ENSP00000355863.1:p.Glu424Gln
ENST00000366898.5:c.1354G>C	ENSP00000355865.1:p.Glu452Gln
ENST00000479615.5:c.*130G>C	ENSP00000434414.1:n.*130G>C
ENST00000610470.4:c.487G>C	ENSP00000483773.1:p.Glu163Gln
NM_004562.2:c.1354G>C	NP_004553.2:p.Glu452Gln
NM_013987.2:c.1270G>C	NP_054642.2:p.Glu424Gln
NM_013988.2:c.907G>C	NP_054643.2:p.Glu303Gln
XM_011535863.1:c.1351G>C	XP_011534165.1:p.Glu451Gln
XM_017010908.1:c.1468G>C	XP_016866397.1:p.Glu490Gln
XM_017010909.2:c.1114G>C	XP_016866398.1:p.Glu372Gln
XM_024446449.1:c.1117G>C	XP_024302217.1:p.Glu373Gln
XR_001743443.2:n.1546G>C
NM_004562.3:c.1354G>C MANE Select	NP_004553.2:p.Glu452Gln
NM_013987.3:c.1270G>C	NP_054642.2:p.Glu424Gln
NM_013988.3:c.907G>C	NP_054643.2:p.Glu303Gln