Canonical Allele Identifier: CA151429369

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161348997G>C , CM000668.2:g.161348997G>C	GRCh38
NC_000006.11:g.161770029G>C , CM000668.1:g.161770029G>C	GRCh37
NC_000006.10:g.161690019G>C	NCBI36
NG_008289.1:g.1383806C>G
NG_008289.2:g.1383806C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.*1102C>G MANE Select	NP_004553.2:n.*1102C>G
ENST00000366898.6:c.*1102C>G MANE Select	ENSP00000355865.1:n.*1102C>G
NM_004562.2:c.*1102C>G	NP_004553.2:n.*1102C>G
NM_013987.2:c.*1102C>G	NP_054642.2:n.*1102C>G
NM_013987.3:c.*1102C>G	NP_054642.2:n.*1102C>G
NM_013988.2:c.*1102C>G	NP_054643.2:n.*1102C>G
NM_013988.3:c.*1102C>G	NP_054643.2:n.*1102C>G
ENST00000366896.5:c.*1102C>G	ENSP00000355862.1:n.*1102C>G
ENST00000366897.5:c.*1102C>G	ENSP00000355863.1:n.*1102C>G
ENST00000366898.5:c.*1102C>G	ENSP00000355865.1:n.*1102C>G
ENST00000673871.1:c.2581C>G
ENST00000674006.1:n.1885C>G
ENST00000674436.1:n.2136C>G
XM_011535863.1:c.*1102C>G	XP_011534165.1:n.*1102C>G
XM_017010908.1:c.*1102C>G	XP_016866397.1:n.*1102C>G
XM_017010909.2:c.*1102C>G	XP_016866398.1:n.*1102C>G
XM_024446449.1:c.*1102C>G	XP_024302217.1:n.*1102C>G
XR_001743443.2:n.2692C>G