Canonical Allele Identifier: CA366456218

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771174T>G (hg19) ; chr6:g.161350142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350142T>G , CM000668.2:g.161350142T>G	GRCh38
NC_000006.11:g.161771174T>G , CM000668.1:g.161771174T>G	GRCh37
NC_000006.10:g.161691164T>G	NCBI36
NG_008289.1:g.1382661A>C
NG_008289.2:g.1382661A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1233A>C	ENSP00000343589.4:n.1233A>C
ENST00000366894.6:c.1114A>C	ENSP00000355860.2:n.1114A>C
ENST00000366898.6:c.1355A>C MANE Select	ENSP00000355865.1:p.Glu452Ala
ENST00000673871.1:c.1436A>C
ENST00000674006.1:n.740A>C
ENST00000674436.1:n.991A>C
ENST00000338468.7:c.782A>C	ENSP00000343589.3:p.Glu261Ala
ENST00000366894.5:c.782A>C	ENSP00000355860.1:p.Glu261Ala
ENST00000366896.5:c.908A>C	ENSP00000355862.1:p.Glu303Ala
ENST00000366897.5:c.1271A>C	ENSP00000355863.1:p.Glu424Ala
ENST00000366898.5:c.1355A>C	ENSP00000355865.1:p.Glu452Ala
ENST00000479615.5:c.*131A>C	ENSP00000434414.1:n.*131A>C
ENST00000610470.4:c.488A>C	ENSP00000483773.1:p.Glu163Ala
NM_004562.2:c.1355A>C	NP_004553.2:p.Glu452Ala
NM_013987.2:c.1271A>C	NP_054642.2:p.Glu424Ala
NM_013988.2:c.908A>C	NP_054643.2:p.Glu303Ala
XM_011535863.1:c.1352A>C	XP_011534165.1:p.Glu451Ala
XM_017010908.1:c.1469A>C	XP_016866397.1:p.Glu490Ala
XM_017010909.2:c.1115A>C	XP_016866398.1:p.Glu372Ala
XM_024446449.1:c.1118A>C	XP_024302217.1:p.Glu373Ala
XR_001743443.2:n.1547A>C
NM_004562.3:c.1355A>C MANE Select	NP_004553.2:p.Glu452Ala
NM_013987.3:c.1271A>C	NP_054642.2:p.Glu424Ala
NM_013988.3:c.908A>C	NP_054643.2:p.Glu303Ala