Canonical Allele Identifier: CA1677680417

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785901C= , CM000668.2:g.161785901C=	GRCh38
NC_000006.11:g.162206933C= , CM000668.1:g.162206933C=	GRCh37
NC_000006.10:g.162126923C=	NCBI36
NG_008289.1:g.946902G=
NG_008289.2:g.946902G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.620G=	ENSP00000343589.4:n.620G=
ENST00000366894.6:c.501G=	ENSP00000355860.2:n.501G=
ENST00000366898.6:c.742G= MANE Select	ENSP00000355865.1:p.Val248=
ENST00000673871.1:c.737G=
ENST00000674006.1:n.127G=
ENST00000674436.1:n.378G=
ENST00000674501.1:n.849G=
ENST00000338468.7:c.169G=	ENSP00000343589.3:p.Val57=
ENST00000366892.5:c.742G=	ENSP00000355858.1:p.Val248=
ENST00000366894.5:c.169G=	ENSP00000355860.1:p.Val57=
ENST00000366896.5:c.295G=	ENSP00000355862.1:p.Val99=
ENST00000366897.5:c.658G=	ENSP00000355863.1:p.Val220=
ENST00000366898.5:c.742G=	ENSP00000355865.1:p.Val248=
ENST00000479615.5:c.505G=	ENSP00000434414.1:p.Val169=
NM_004562.2:c.742G=	NP_004553.2:p.Val248=
NM_013987.2:c.658G=	NP_054642.2:p.Val220=
NM_013988.2:c.295G=	NP_054643.2:p.Val99=
XM_011535863.1:c.739G=	XP_011534165.1:p.Val247=
XM_011535864.1:c.742G=	XP_011534166.1:p.Val248=
XM_011535865.1:c.742G=	XP_011534167.1:p.Val248=
XM_017010908.1:c.856G=	XP_016866397.1:p.Val286=
XM_017010909.2:c.502G=	XP_016866398.1:p.Val168=
XM_024446449.1:c.505G=	XP_024302217.1:p.Val169=
XR_001743443.2:n.848G=
NM_004562.3:c.742G= MANE Select	NP_004553.2:p.Val248=
NM_013987.3:c.658G=	NP_054642.2:p.Val220=
NM_013988.3:c.295G=	NP_054643.2:p.Val99=