Canonical Allele Identifier: CA366456161

Gene: PRKN

Linked Data

• gnomAD v4: 6-161350117-G-C
• MyVariant Identifiers: chr6:g.161771149G>C (hg19) ; chr6:g.161350117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350117G>C , CM000668.2:g.161350117G>C	GRCh38
NC_000006.11:g.161771149G>C , CM000668.1:g.161771149G>C	GRCh37
NC_000006.10:g.161691139G>C	NCBI36
NG_008289.1:g.1382686C>G
NG_008289.2:g.1382686C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1258C>G	ENSP00000343589.4:n.1258C>G
ENST00000366894.6:c.1139C>G	ENSP00000355860.2:n.1139C>G
ENST00000366898.6:c.1380C>G MANE Select	ENSP00000355865.1:p.Asp460Glu
ENST00000673871.1:c.1461C>G
ENST00000674006.1:n.765C>G
ENST00000674436.1:n.1016C>G
ENST00000338468.7:c.807C>G	ENSP00000343589.3:p.Asp269Glu
ENST00000366894.5:c.807C>G	ENSP00000355860.1:p.Asp269Glu
ENST00000366896.5:c.933C>G	ENSP00000355862.1:p.Asp311Glu
ENST00000366897.5:c.1296C>G	ENSP00000355863.1:p.Asp432Glu
ENST00000366898.5:c.1380C>G	ENSP00000355865.1:p.Asp460Glu
ENST00000479615.5:c.*156C>G	ENSP00000434414.1:n.*156C>G
ENST00000610470.4:c.513C>G	ENSP00000483773.1:p.Asp171Glu
NM_004562.2:c.1380C>G	NP_004553.2:p.Asp460Glu
NM_013987.2:c.1296C>G	NP_054642.2:p.Asp432Glu
NM_013988.2:c.933C>G	NP_054643.2:p.Asp311Glu
XM_011535863.1:c.1377C>G	XP_011534165.1:p.Asp459Glu
XM_017010908.1:c.1494C>G	XP_016866397.1:p.Asp498Glu
XM_017010909.2:c.1140C>G	XP_016866398.1:p.Asp380Glu
XM_024446449.1:c.1143C>G	XP_024302217.1:p.Asp381Glu
XR_001743443.2:n.1572C>G
NM_004562.3:c.1380C>G MANE Select	NP_004553.2:p.Asp460Glu
NM_013987.3:c.1296C>G	NP_054642.2:p.Asp432Glu
NM_013988.3:c.933C>G	NP_054643.2:p.Asp311Glu