Canonical Allele Identifier: CA1677680185

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785820G= , CM000668.2:g.161785820G=	GRCh38
NC_000006.11:g.162206852G= , CM000668.1:g.162206852G=	GRCh37
NC_000006.10:g.162126842G=	NCBI36
NG_008289.1:g.946983C=
NG_008289.2:g.946983C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.823C= MANE Select	NP_004553.2:p.Arg275=
ENST00000366898.6:c.823C= MANE Select	ENSP00000355865.1:p.Arg275=
NM_004562.2:c.823C=	NP_004553.2:p.Arg275=
NM_013987.2:c.739C=	NP_054642.2:p.Arg247=
NM_013987.3:c.739C=	NP_054642.2:p.Arg247=
NM_013988.2:c.376C=	NP_054643.2:p.Arg126=
NM_013988.3:c.376C=	NP_054643.2:p.Arg126=
ENST00000338468.7:c.250C=	ENSP00000343589.3:p.Arg84=
ENST00000338468.8:c.701C=	ENSP00000343589.4:n.701C=
ENST00000366892.5:c.823C=	ENSP00000355858.1:p.Arg275=
ENST00000366894.5:c.250C=	ENSP00000355860.1:p.Arg84=
ENST00000366894.6:c.582C=	ENSP00000355860.2:n.582C=
ENST00000366896.5:c.376C=	ENSP00000355862.1:p.Arg126=
ENST00000366897.5:c.739C=	ENSP00000355863.1:p.Arg247=
ENST00000366898.5:c.823C=	ENSP00000355865.1:p.Arg275=
ENST00000479615.5:c.586C=	ENSP00000434414.1:p.Arg196=
ENST00000673871.1:c.818C=
ENST00000674006.1:n.208C=
ENST00000674436.1:n.459C=
ENST00000674501.1:n.930C=
XM_011535863.1:c.820C=	XP_011534165.1:p.Arg274=
XM_011535864.1:c.823C=	XP_011534166.1:p.Arg275=
XM_011535865.1:c.823C=	XP_011534167.1:p.Arg275=
XM_017010908.1:c.937C=	XP_016866397.1:p.Arg313=
XM_017010909.2:c.583C=	XP_016866398.1:p.Arg195=
XM_024446449.1:c.586C=	XP_024302217.1:p.Arg196=
XR_001743443.2:n.929C=