Canonical Allele Identifier: CA366459551

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161569396T>A , CM000668.2:g.161569396T>A	GRCh38
NC_000006.11:g.161990428T>A , CM000668.1:g.161990428T>A	GRCh37
NC_000006.10:g.161910418T>A	NCBI36
NG_008289.1:g.1163407A>T
NG_008289.2:g.1163407A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.892A>T MANE Select	NP_004553.2:p.Ile298Phe
ENST00000366898.6:c.892A>T MANE Select	ENSP00000355865.1:p.Ile298Phe
NM_004562.2:c.892A>T	NP_004553.2:p.Ile298Phe
NM_013987.2:c.808A>T	NP_054642.2:p.Ile270Phe
NM_013987.3:c.808A>T	NP_054642.2:p.Ile270Phe
NM_013988.2:c.445A>T	NP_054643.2:p.Ile149Phe
NM_013988.3:c.445A>T	NP_054643.2:p.Ile149Phe
ENST00000338468.7:c.319A>T	ENSP00000343589.3:p.Ile107Phe
ENST00000338468.8:c.770A>T	ENSP00000343589.4:n.770A>T
ENST00000366892.5:c.892A>T	ENSP00000355858.1:p.Ile298Phe
ENST00000366894.5:c.319A>T	ENSP00000355860.1:p.Ile107Phe
ENST00000366894.6:c.651A>T	ENSP00000355860.2:n.651A>T
ENST00000366896.5:c.445A>T	ENSP00000355862.1:p.Ile149Phe
ENST00000366897.5:c.808A>T	ENSP00000355863.1:p.Ile270Phe
ENST00000366898.5:c.892A>T	ENSP00000355865.1:p.Ile298Phe
ENST00000479615.5:c.635-182519A>T	ENSP00000434414.1:n.635-182519A>T
ENST00000610470.4:c.25A>T	ENSP00000483773.1:p.Ile9Phe
ENST00000612485.1:c.22A>T	ENSP00000480716.1:p.Ile8Phe
ENST00000673871.1:c.887A>T
ENST00000674006.1:n.277A>T
ENST00000674436.1:n.528A>T
ENST00000674501.1:n.999A>T
XM_011535863.1:c.889A>T	XP_011534165.1:p.Ile297Phe
XM_011535864.1:c.892A>T	XP_011534166.1:p.Ile298Phe
XM_011535865.1:c.892A>T	XP_011534167.1:p.Ile298Phe
XM_017010908.1:c.1006A>T	XP_016866397.1:p.Ile336Phe
XM_017010909.2:c.652A>T	XP_016866398.1:p.Ile218Phe
XM_024446449.1:c.655A>T	XP_024302217.1:p.Ile219Phe
XR_001743443.2:n.998A>T