Canonical Allele Identifier: CA366456230

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771180C>A (hg19) ; chr6:g.161350148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350148C>A , CM000668.2:g.161350148C>A	GRCh38
NC_000006.11:g.161771180C>A , CM000668.1:g.161771180C>A	GRCh37
NC_000006.10:g.161691170C>A	NCBI36
NG_008289.1:g.1382655G>T
NG_008289.2:g.1382655G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1227G>T	ENSP00000343589.4:n.1227G>T
ENST00000366894.6:c.1108G>T	ENSP00000355860.2:n.1108G>T
ENST00000366898.6:c.1349G>T MANE Select	ENSP00000355865.1:p.Gly450Val
ENST00000673871.1:c.1430G>T
ENST00000674006.1:n.734G>T
ENST00000674436.1:n.985G>T
ENST00000338468.7:c.776G>T	ENSP00000343589.3:p.Gly259Val
ENST00000366894.5:c.776G>T	ENSP00000355860.1:p.Gly259Val
ENST00000366896.5:c.902G>T	ENSP00000355862.1:p.Gly301Val
ENST00000366897.5:c.1265G>T	ENSP00000355863.1:p.Gly422Val
ENST00000366898.5:c.1349G>T	ENSP00000355865.1:p.Gly450Val
ENST00000479615.5:c.*125G>T	ENSP00000434414.1:n.*125G>T
ENST00000610470.4:c.482G>T	ENSP00000483773.1:p.Gly161Val
NM_004562.2:c.1349G>T	NP_004553.2:p.Gly450Val
NM_013987.2:c.1265G>T	NP_054642.2:p.Gly422Val
NM_013988.2:c.902G>T	NP_054643.2:p.Gly301Val
XM_011535863.1:c.1346G>T	XP_011534165.1:p.Gly449Val
XM_017010908.1:c.1463G>T	XP_016866397.1:p.Gly488Val
XM_017010909.2:c.1109G>T	XP_016866398.1:p.Gly370Val
XM_024446449.1:c.1112G>T	XP_024302217.1:p.Gly371Val
XR_001743443.2:n.1541G>T
NM_004562.3:c.1349G>T MANE Select	NP_004553.2:p.Gly450Val
NM_013987.3:c.1265G>T	NP_054642.2:p.Gly422Val
NM_013988.3:c.902G>T	NP_054643.2:p.Gly301Val