Canonical Allele Identifier: CA366456138

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771141A>C (hg19) ; chr6:g.161350109A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350109A>C , CM000668.2:g.161350109A>C	GRCh38
NC_000006.11:g.161771141A>C , CM000668.1:g.161771141A>C	GRCh37
NC_000006.10:g.161691131A>C	NCBI36
NG_008289.1:g.1382694T>G
NG_008289.2:g.1382694T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1266T>G	ENSP00000343589.4:n.1266T>G
ENST00000366894.6:c.1147T>G	ENSP00000355860.2:n.1147T>G
ENST00000366898.6:c.1388T>G MANE Select	ENSP00000355865.1:p.Phe463Cys
ENST00000673871.1:c.1469T>G
ENST00000674006.1:n.773T>G
ENST00000674436.1:n.1024T>G
ENST00000338468.7:c.815T>G	ENSP00000343589.3:p.Phe272Cys
ENST00000366894.5:c.815T>G	ENSP00000355860.1:p.Phe272Cys
ENST00000366896.5:c.941T>G	ENSP00000355862.1:p.Phe314Cys
ENST00000366897.5:c.1304T>G	ENSP00000355863.1:p.Phe435Cys
ENST00000366898.5:c.1388T>G	ENSP00000355865.1:p.Phe463Cys
ENST00000479615.5:c.*164T>G	ENSP00000434414.1:n.*164T>G
ENST00000610470.4:c.521T>G	ENSP00000483773.1:p.Phe174Cys
NM_004562.2:c.1388T>G	NP_004553.2:p.Phe463Cys
NM_013987.2:c.1304T>G	NP_054642.2:p.Phe435Cys
NM_013988.2:c.941T>G	NP_054643.2:p.Phe314Cys
XM_011535863.1:c.1385T>G	XP_011534165.1:p.Phe462Cys
XM_017010908.1:c.1502T>G	XP_016866397.1:p.Phe501Cys
XM_017010909.2:c.1148T>G	XP_016866398.1:p.Phe383Cys
XM_024446449.1:c.1151T>G	XP_024302217.1:p.Phe384Cys
XR_001743443.2:n.1580T>G
NM_004562.3:c.1388T>G MANE Select	NP_004553.2:p.Phe463Cys
NM_013987.3:c.1304T>G	NP_054642.2:p.Phe435Cys
NM_013988.3:c.941T>G	NP_054643.2:p.Phe314Cys