Canonical Allele Identifier: CA366456151

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771145A>T (hg19) ; chr6:g.161350113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350113A>T , CM000668.2:g.161350113A>T	GRCh38
NC_000006.11:g.161771145A>T , CM000668.1:g.161771145A>T	GRCh37
NC_000006.10:g.161691135A>T	NCBI36
NG_008289.1:g.1382690T>A
NG_008289.2:g.1382690T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1262T>A	ENSP00000343589.4:n.1262T>A
ENST00000366894.6:c.1143T>A	ENSP00000355860.2:n.1143T>A
ENST00000366898.6:c.1384T>A MANE Select	ENSP00000355865.1:p.Trp462Arg
ENST00000673871.1:c.1465T>A
ENST00000674006.1:n.769T>A
ENST00000674436.1:n.1020T>A
ENST00000338468.7:c.811T>A	ENSP00000343589.3:p.Trp271Arg
ENST00000366894.5:c.811T>A	ENSP00000355860.1:p.Trp271Arg
ENST00000366896.5:c.937T>A	ENSP00000355862.1:p.Trp313Arg
ENST00000366897.5:c.1300T>A	ENSP00000355863.1:p.Trp434Arg
ENST00000366898.5:c.1384T>A	ENSP00000355865.1:p.Trp462Arg
ENST00000479615.5:c.*160T>A	ENSP00000434414.1:n.*160T>A
ENST00000610470.4:c.517T>A	ENSP00000483773.1:p.Trp173Arg
NM_004562.2:c.1384T>A	NP_004553.2:p.Trp462Arg
NM_013987.2:c.1300T>A	NP_054642.2:p.Trp434Arg
NM_013988.2:c.937T>A	NP_054643.2:p.Trp313Arg
XM_011535863.1:c.1381T>A	XP_011534165.1:p.Trp461Arg
XM_017010908.1:c.1498T>A	XP_016866397.1:p.Trp500Arg
XM_017010909.2:c.1144T>A	XP_016866398.1:p.Trp382Arg
XM_024446449.1:c.1147T>A	XP_024302217.1:p.Trp383Arg
XR_001743443.2:n.1576T>A
NM_004562.3:c.1384T>A MANE Select	NP_004553.2:p.Trp462Arg
NM_013987.3:c.1300T>A	NP_054642.2:p.Trp434Arg
NM_013988.3:c.937T>A	NP_054643.2:p.Trp313Arg