Canonical Allele Identifier: CA1677586384

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161569357G= , CM000668.2:g.161569357G=	GRCh38
NC_000006.11:g.161990389G= , CM000668.1:g.161990389G=	GRCh37
NC_000006.10:g.161910379G=	NCBI36
NG_008289.1:g.1163446C=
NG_008289.2:g.1163446C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.931C= MANE Select	NP_004553.2:p.Gln311=
ENST00000366898.6:c.931C= MANE Select	ENSP00000355865.1:p.Gln311=
NM_004562.2:c.931C=	NP_004553.2:p.Gln311=
NM_013987.2:c.847C=	NP_054642.2:p.Gln283=
NM_013987.3:c.847C=	NP_054642.2:p.Gln283=
NM_013988.2:c.484C=	NP_054643.2:p.Gln162=
NM_013988.3:c.484C=	NP_054643.2:p.Gln162=
ENST00000338468.7:c.358C=	ENSP00000343589.3:p.Gln120=
ENST00000338468.8:c.809C=	ENSP00000343589.4:n.809C=
ENST00000366892.5:c.931C=	ENSP00000355858.1:p.Gln311=
ENST00000366894.5:c.358C=	ENSP00000355860.1:p.Gln120=
ENST00000366894.6:c.690C=	ENSP00000355860.2:n.690C=
ENST00000366896.5:c.484C=	ENSP00000355862.1:p.Gln162=
ENST00000366897.5:c.847C=	ENSP00000355863.1:p.Gln283=
ENST00000366898.5:c.931C=	ENSP00000355865.1:p.Gln311=
ENST00000479615.5:c.635-182480C=	ENSP00000434414.1:n.635-182480C=
ENST00000610470.4:c.64C=	ENSP00000483773.1:p.Gln22=
ENST00000612485.1:c.61C=	ENSP00000480716.1:p.Gln21=
ENST00000673871.1:c.926C=
ENST00000674006.1:n.316C=
ENST00000674436.1:n.567C=
ENST00000674501.1:n.1038C=
XM_011535863.1:c.928C=	XP_011534165.1:p.Gln310=
XM_011535864.1:c.931C=	XP_011534166.1:p.Gln311=
XM_011535865.1:c.931C=	XP_011534167.1:p.Gln311=
XM_017010908.1:c.1045C=	XP_016866397.1:p.Gln349=
XM_017010909.2:c.691C=	XP_016866398.1:p.Gln231=
XM_024446449.1:c.694C=	XP_024302217.1:p.Gln232=
XR_001743443.2:n.1037C=