Canonical Allele Identifier: CA366456169

Gene: PRKN

Linked Data

• dbSNP Id: rs751485437
• MyVariant Identifiers: chr6:g.161771153C>G (hg19) ; chr6:g.161350121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350121C>G , CM000668.2:g.161350121C>G	GRCh38
NC_000006.11:g.161771153C>G , CM000668.1:g.161771153C>G	GRCh37
NC_000006.10:g.161691143C>G	NCBI36
NG_008289.1:g.1382682G>C
NG_008289.2:g.1382682G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1254G>C	ENSP00000343589.4:n.1254G>C
ENST00000366894.6:c.1135G>C	ENSP00000355860.2:n.1135G>C
ENST00000366898.6:c.1376G>C MANE Select	ENSP00000355865.1:p.Gly459Ala
ENST00000673871.1:c.1457G>C
ENST00000674006.1:n.761G>C
ENST00000674436.1:n.1012G>C
ENST00000338468.7:c.803G>C	ENSP00000343589.3:p.Gly268Ala
ENST00000366894.5:c.803G>C	ENSP00000355860.1:p.Gly268Ala
ENST00000366896.5:c.929G>C	ENSP00000355862.1:p.Gly310Ala
ENST00000366897.5:c.1292G>C	ENSP00000355863.1:p.Gly431Ala
ENST00000366898.5:c.1376G>C	ENSP00000355865.1:p.Gly459Ala
ENST00000479615.5:c.*152G>C	ENSP00000434414.1:n.*152G>C
ENST00000610470.4:c.509G>C	ENSP00000483773.1:p.Gly170Ala
NM_004562.2:c.1376G>C	NP_004553.2:p.Gly459Ala
NM_013987.2:c.1292G>C	NP_054642.2:p.Gly431Ala
NM_013988.2:c.929G>C	NP_054643.2:p.Gly310Ala
XM_011535863.1:c.1373G>C	XP_011534165.1:p.Gly458Ala
XM_017010908.1:c.1490G>C	XP_016866397.1:p.Gly497Ala
XM_017010909.2:c.1136G>C	XP_016866398.1:p.Gly379Ala
XM_024446449.1:c.1139G>C	XP_024302217.1:p.Gly380Ala
XR_001743443.2:n.1568G>C
NM_004562.3:c.1376G>C MANE Select	NP_004553.2:p.Gly459Ala
NM_013987.3:c.1292G>C	NP_054642.2:p.Gly431Ala
NM_013988.3:c.929G>C	NP_054643.2:p.Gly310Ala