Canonical Allele Identifier: CA254084

Gene: PRKN

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161973401C>T , CM000668.2:g.161973401C>T	GRCh38
NC_000006.11:g.162394433C>T , CM000668.1:g.162394433C>T	GRCh37
NC_000006.10:g.162314423C>T	NCBI36
NG_008289.1:g.759402G>A
NG_008289.2:g.759402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.513G>A	ENSP00000343589.4:n.513G>A
ENST00000366894.6:c.394G>A	ENSP00000355860.2:n.394G>A
ENST00000366898.6:c.635G>A MANE Select	ENSP00000355865.1:p.Cys212Tyr
ENST00000673871.1:c.630G>A
ENST00000674232.1:n.653G>A
ENST00000674436.1:n.271G>A
ENST00000674501.1:n.742G>A
ENST00000338468.7:c.62G>A	ENSP00000343589.3:p.Cys21Tyr
ENST00000366892.5:c.635G>A	ENSP00000355858.1:p.Cys212Tyr
ENST00000366894.5:c.62G>A	ENSP00000355860.1:p.Cys21Tyr
ENST00000366896.5:c.188G>A	ENSP00000355862.1:p.Cys63Tyr
ENST00000366897.5:c.551G>A	ENSP00000355863.1:p.Cys184Tyr
ENST00000366898.5:c.635G>A	ENSP00000355865.1:p.Cys212Tyr
ENST00000479615.5:c.398G>A	ENSP00000434414.1:p.Cys133Tyr
NM_004562.2:c.635G>A	NP_004553.2:p.Cys212Tyr
NM_013987.2:c.551G>A	NP_054642.2:p.Cys184Tyr
NM_013988.2:c.188G>A	NP_054643.2:p.Cys63Tyr
XM_011535863.1:c.632G>A	XP_011534165.1:p.Cys211Tyr
XM_011535864.1:c.635G>A	XP_011534166.1:p.Cys212Tyr
XM_011535865.1:c.635G>A	XP_011534167.1:p.Cys212Tyr
XM_011535866.1:c.635G>A	XP_011534168.1:p.Cys212Tyr
XM_011535867.1:c.635G>A	XP_011534169.1:p.Cys212Tyr
XM_017010908.1:c.749G>A	XP_016866397.1:p.Cys250Tyr
XM_017010909.2:c.395G>A	XP_016866398.1:p.Cys132Tyr
XM_024446449.1:c.398G>A	XP_024302217.1:p.Cys133Tyr
XR_001743443.2:n.741G>A
NM_004562.3:c.635G>A MANE Select	NP_004553.2:p.Cys212Tyr
NM_013987.3:c.551G>A	NP_054642.2:p.Cys184Tyr
NM_013988.3:c.188G>A	NP_054643.2:p.Cys63Tyr