Canonical Allele Identifier: CA4090111

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161569358C>G , CM000668.2:g.161569358C>G	GRCh38
NC_000006.11:g.161990390C>G , CM000668.1:g.161990390C>G	GRCh37
NC_000006.10:g.161910380C>G	NCBI36
NG_008289.1:g.1163445G>C
NG_008289.2:g.1163445G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.930G>C MANE Select	NP_004553.2:p.Glu310Asp
ENST00000366898.6:c.930G>C MANE Select	ENSP00000355865.1:p.Glu310Asp
NM_004562.2:c.930G>C	NP_004553.2:p.Glu310Asp
NM_013987.2:c.846G>C	NP_054642.2:p.Glu282Asp
NM_013987.3:c.846G>C	NP_054642.2:p.Glu282Asp
NM_013988.2:c.483G>C	NP_054643.2:p.Glu161Asp
NM_013988.3:c.483G>C	NP_054643.2:p.Glu161Asp
ENST00000338468.7:c.357G>C	ENSP00000343589.3:p.Glu119Asp
ENST00000338468.8:c.808G>C	ENSP00000343589.4:n.808G>C
ENST00000366892.5:c.930G>C	ENSP00000355858.1:p.Glu310Asp
ENST00000366894.5:c.357G>C	ENSP00000355860.1:p.Glu119Asp
ENST00000366894.6:c.689G>C	ENSP00000355860.2:n.689G>C
ENST00000366896.5:c.483G>C	ENSP00000355862.1:p.Glu161Asp
ENST00000366897.5:c.846G>C	ENSP00000355863.1:p.Glu282Asp
ENST00000366898.5:c.930G>C	ENSP00000355865.1:p.Glu310Asp
ENST00000479615.5:c.635-182481G>C	ENSP00000434414.1:n.635-182481G>C
ENST00000610470.4:c.63G>C	ENSP00000483773.1:p.Glu21Asp
ENST00000612485.1:c.60G>C	ENSP00000480716.1:p.Glu20Asp
ENST00000673871.1:c.925G>C
ENST00000674006.1:n.315G>C
ENST00000674436.1:n.566G>C
ENST00000674501.1:n.1037G>C
XM_011535863.1:c.927G>C	XP_011534165.1:p.Glu309Asp
XM_011535864.1:c.930G>C	XP_011534166.1:p.Glu310Asp
XM_011535865.1:c.930G>C	XP_011534167.1:p.Glu310Asp
XM_017010908.1:c.1044G>C	XP_016866397.1:p.Glu348Asp
XM_017010909.2:c.690G>C	XP_016866398.1:p.Glu230Asp
XM_024446449.1:c.693G>C	XP_024302217.1:p.Glu231Asp
XR_001743443.2:n.1036G>C