Canonical Allele Identifier: CA366456145

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771143C>G (hg19) ; chr6:g.161350111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350111C>G , CM000668.2:g.161350111C>G	GRCh38
NC_000006.11:g.161771143C>G , CM000668.1:g.161771143C>G	GRCh37
NC_000006.10:g.161691133C>G	NCBI36
NG_008289.1:g.1382692G>C
NG_008289.2:g.1382692G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1264G>C	ENSP00000343589.4:n.1264G>C
ENST00000366894.6:c.1145G>C	ENSP00000355860.2:n.1145G>C
ENST00000366898.6:c.1386G>C MANE Select	ENSP00000355865.1:p.Trp462Cys
ENST00000673871.1:c.1467G>C
ENST00000674006.1:n.771G>C
ENST00000674436.1:n.1022G>C
ENST00000338468.7:c.813G>C	ENSP00000343589.3:p.Trp271Cys
ENST00000366894.5:c.813G>C	ENSP00000355860.1:p.Trp271Cys
ENST00000366896.5:c.939G>C	ENSP00000355862.1:p.Trp313Cys
ENST00000366897.5:c.1302G>C	ENSP00000355863.1:p.Trp434Cys
ENST00000366898.5:c.1386G>C	ENSP00000355865.1:p.Trp462Cys
ENST00000479615.5:c.*162G>C	ENSP00000434414.1:n.*162G>C
ENST00000610470.4:c.519G>C	ENSP00000483773.1:p.Trp173Cys
NM_004562.2:c.1386G>C	NP_004553.2:p.Trp462Cys
NM_013987.2:c.1302G>C	NP_054642.2:p.Trp434Cys
NM_013988.2:c.939G>C	NP_054643.2:p.Trp313Cys
XM_011535863.1:c.1383G>C	XP_011534165.1:p.Trp461Cys
XM_017010908.1:c.1500G>C	XP_016866397.1:p.Trp500Cys
XM_017010909.2:c.1146G>C	XP_016866398.1:p.Trp382Cys
XM_024446449.1:c.1149G>C	XP_024302217.1:p.Trp383Cys
XR_001743443.2:n.1578G>C
NM_004562.3:c.1386G>C MANE Select	NP_004553.2:p.Trp462Cys
NM_013987.3:c.1302G>C	NP_054642.2:p.Trp434Cys
NM_013988.3:c.939G>C	NP_054643.2:p.Trp313Cys