Canonical Allele Identifier: CA1677492743

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161360169G= , CM000668.2:g.161360169G=	GRCh38
NC_000006.11:g.161781201G= , CM000668.1:g.161781201G=	GRCh37
NC_000006.10:g.161701191G=	NCBI36
NG_008289.1:g.1372634C=
NG_008289.2:g.1372634C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.1204C= MANE Select	NP_004553.2:p.Arg402=
ENST00000366898.6:c.1204C= MANE Select	ENSP00000355865.1:p.Arg402=
NM_004562.2:c.1204C=	NP_004553.2:p.Arg402=
NM_013987.2:c.1120C=	NP_054642.2:p.Arg374=
NM_013987.3:c.1120C=	NP_054642.2:p.Arg374=
NM_013988.2:c.757C=	NP_054643.2:p.Arg253=
NM_013988.3:c.757C=	NP_054643.2:p.Arg253=
ENST00000338468.7:c.631C=	ENSP00000343589.3:p.Arg211=
ENST00000338468.8:c.1082C=	ENSP00000343589.4:n.1082C=
ENST00000366894.5:c.631C=	ENSP00000355860.1:p.Arg211=
ENST00000366894.6:c.963C=	ENSP00000355860.2:n.963C=
ENST00000366896.5:c.757C=	ENSP00000355862.1:p.Arg253=
ENST00000366897.5:c.1120C=	ENSP00000355863.1:p.Arg374=
ENST00000366898.5:c.1204C=	ENSP00000355865.1:p.Arg402=
ENST00000479615.5:c.*62-9958C=	ENSP00000434414.1:n.*62-9958C=
ENST00000610470.4:c.337C=	ENSP00000483773.1:p.Arg113=
ENST00000673871.1:c.1285C=
ENST00000674006.1:n.589C=
ENST00000674436.1:n.840C=
XM_011535863.1:c.1201C=	XP_011534165.1:p.Arg401=
XM_017010908.1:c.1318C=	XP_016866397.1:p.Arg440=
XM_017010909.2:c.964C=	XP_016866398.1:p.Arg322=
XM_024446449.1:c.967C=	XP_024302217.1:p.Arg323=
XR_001743443.2:n.1396C=