Canonical Allele Identifier: CA366459414

Gene: PRKN

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.931C>G MANE Select	NP_004553.2:p.Gln311Glu
ENST00000366898.6:c.931C>G MANE Select	ENSP00000355865.1:p.Gln311Glu
NM_004562.2:c.931C>G	NP_004553.2:p.Gln311Glu
NM_013987.2:c.847C>G	NP_054642.2:p.Gln283Glu
NM_013987.3:c.847C>G	NP_054642.2:p.Gln283Glu
NM_013988.2:c.484C>G	NP_054643.2:p.Gln162Glu
NM_013988.3:c.484C>G	NP_054643.2:p.Gln162Glu
ENST00000338468.7:c.358C>G	ENSP00000343589.3:p.Gln120Glu
ENST00000338468.8:c.809C>G	ENSP00000343589.4:n.809C>G
ENST00000366892.5:c.931C>G	ENSP00000355858.1:p.Gln311Glu
ENST00000366894.5:c.358C>G	ENSP00000355860.1:p.Gln120Glu
ENST00000366894.6:c.690C>G	ENSP00000355860.2:n.690C>G
ENST00000366896.5:c.484C>G	ENSP00000355862.1:p.Gln162Glu
ENST00000366897.5:c.847C>G	ENSP00000355863.1:p.Gln283Glu
ENST00000366898.5:c.931C>G	ENSP00000355865.1:p.Gln311Glu
ENST00000479615.5:c.635-182480C>G	ENSP00000434414.1:n.635-182480C>G
ENST00000610470.4:c.64C>G	ENSP00000483773.1:p.Gln22Glu
ENST00000612485.1:c.61C>G	ENSP00000480716.1:p.Gln21Glu
ENST00000673871.1:c.926C>G
ENST00000674006.1:n.316C>G
ENST00000674436.1:n.567C>G
ENST00000674501.1:n.1038C>G
XM_011535863.1:c.928C>G	XP_011534165.1:p.Gln310Glu
XM_011535864.1:c.931C>G	XP_011534166.1:p.Gln311Glu
XM_011535865.1:c.931C>G	XP_011534167.1:p.Gln311Glu
XM_017010908.1:c.1045C>G	XP_016866397.1:p.Gln349Glu
XM_017010909.2:c.691C>G	XP_016866398.1:p.Gln231Glu
XM_024446449.1:c.694C>G	XP_024302217.1:p.Gln232Glu
XR_001743443.2:n.1037C>G