Canonical Allele Identifier: CA4090083

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161548950G>A , CM000668.2:g.161548950G>A	GRCh38
NC_000006.11:g.161969982G>A , CM000668.1:g.161969982G>A	GRCh37
NC_000006.10:g.161889972G>A	NCBI36
NG_008289.1:g.1183853C>T
NG_008289.2:g.1183853C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.987C>T MANE Select	NP_004553.2:p.Gly329=
ENST00000366898.6:c.987C>T MANE Select	ENSP00000355865.1:p.Gly329=
NM_004562.2:c.987C>T	NP_004553.2:p.Gly329=
NM_013987.2:c.903C>T	NP_054642.2:p.Gly301=
NM_013987.3:c.903C>T	NP_054642.2:p.Gly301=
NM_013988.2:c.540C>T	NP_054643.2:p.Gly180=
NM_013988.3:c.540C>T	NP_054643.2:p.Gly180=
ENST00000338468.7:c.414C>T	ENSP00000343589.3:p.Gly138=
ENST00000338468.8:c.865C>T	ENSP00000343589.4:n.865C>T
ENST00000366892.5:c.987C>T	ENSP00000355858.1:p.Gly329=
ENST00000366894.5:c.414C>T	ENSP00000355860.1:p.Gly138=
ENST00000366894.6:c.746C>T	ENSP00000355860.2:n.746C>T
ENST00000366896.5:c.540C>T	ENSP00000355862.1:p.Gly180=
ENST00000366897.5:c.903C>T	ENSP00000355863.1:p.Gly301=
ENST00000366898.5:c.987C>T	ENSP00000355865.1:p.Gly329=
ENST00000479615.5:c.635-162073C>T	ENSP00000434414.1:n.635-162073C>T
ENST00000610470.4:c.120C>T	ENSP00000483773.1:p.Gly40=
ENST00000612485.1:c.117C>T	ENSP00000480716.1:p.Gly39=
ENST00000673871.1:c.982C>T
ENST00000674006.1:n.372C>T
ENST00000674436.1:n.623C>T
ENST00000674501.1:n.1094C>T
XM_011535863.1:c.984C>T	XP_011534165.1:p.Gly328=
XM_011535864.1:c.987C>T	XP_011534166.1:p.Gly329=
XM_011535865.1:c.987C>T	XP_011534167.1:p.Gly329=
XM_017010908.1:c.1101C>T	XP_016866397.1:p.Gly367=
XM_017010909.2:c.747C>T	XP_016866398.1:p.Gly249=
XM_024446449.1:c.750C>T	XP_024302217.1:p.Gly250=
XR_001743443.2:n.1093C>T