Canonical Allele Identifier: CA4090116

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161569384G>A , CM000668.2:g.161569384G>A	GRCh38
NC_000006.11:g.161990416G>A , CM000668.1:g.161990416G>A	GRCh37
NC_000006.10:g.161910406G>A	NCBI36
NG_008289.1:g.1163419C>T
NG_008289.2:g.1163419C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.904C>T MANE Select	NP_004553.2:p.His302Tyr
ENST00000366898.6:c.904C>T MANE Select	ENSP00000355865.1:p.His302Tyr
NM_004562.2:c.904C>T	NP_004553.2:p.His302Tyr
NM_013987.2:c.820C>T	NP_054642.2:p.His274Tyr
NM_013987.3:c.820C>T	NP_054642.2:p.His274Tyr
NM_013988.2:c.457C>T	NP_054643.2:p.His153Tyr
NM_013988.3:c.457C>T	NP_054643.2:p.His153Tyr
ENST00000338468.7:c.331C>T	ENSP00000343589.3:p.His111Tyr
ENST00000338468.8:c.782C>T	ENSP00000343589.4:n.782C>T
ENST00000366892.5:c.904C>T	ENSP00000355858.1:p.His302Tyr
ENST00000366894.5:c.331C>T	ENSP00000355860.1:p.His111Tyr
ENST00000366894.6:c.663C>T	ENSP00000355860.2:n.663C>T
ENST00000366896.5:c.457C>T	ENSP00000355862.1:p.His153Tyr
ENST00000366897.5:c.820C>T	ENSP00000355863.1:p.His274Tyr
ENST00000366898.5:c.904C>T	ENSP00000355865.1:p.His302Tyr
ENST00000479615.5:c.635-182507C>T	ENSP00000434414.1:n.635-182507C>T
ENST00000610470.4:c.37C>T	ENSP00000483773.1:p.His13Tyr
ENST00000612485.1:c.34C>T	ENSP00000480716.1:p.His12Tyr
ENST00000673871.1:c.899C>T
ENST00000674006.1:n.289C>T
ENST00000674436.1:n.540C>T
ENST00000674501.1:n.1011C>T
XM_011535863.1:c.901C>T	XP_011534165.1:p.His301Tyr
XM_011535864.1:c.904C>T	XP_011534166.1:p.His302Tyr
XM_011535865.1:c.904C>T	XP_011534167.1:p.His302Tyr
XM_017010908.1:c.1018C>T	XP_016866397.1:p.His340Tyr
XM_017010909.2:c.664C>T	XP_016866398.1:p.His222Tyr
XM_024446449.1:c.667C>T	XP_024302217.1:p.His223Tyr
XR_001743443.2:n.1010C>T