Canonical Allele Identifier: CA366456149

Gene: PRKN

Linked Data

• dbSNP Id: rs1784460311
• MyVariant Identifiers: chr6:g.161771144C>T (hg19) ; chr6:g.161350112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350112C>T , CM000668.2:g.161350112C>T	GRCh38
NC_000006.11:g.161771144C>T , CM000668.1:g.161771144C>T	GRCh37
NC_000006.10:g.161691134C>T	NCBI36
NG_008289.1:g.1382691G>A
NG_008289.2:g.1382691G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1263G>A	ENSP00000343589.4:n.1263G>A
ENST00000366894.6:c.1144G>A	ENSP00000355860.2:n.1144G>A
ENST00000366898.6:c.1385G>A MANE Select	ENSP00000355865.1:p.Trp462Ter
ENST00000673871.1:c.1466G>A
ENST00000674006.1:n.770G>A
ENST00000674436.1:n.1021G>A
ENST00000338468.7:c.812G>A	ENSP00000343589.3:p.Trp271Ter
ENST00000366894.5:c.812G>A	ENSP00000355860.1:p.Trp271Ter
ENST00000366896.5:c.938G>A	ENSP00000355862.1:p.Trp313Ter
ENST00000366897.5:c.1301G>A	ENSP00000355863.1:p.Trp434Ter
ENST00000366898.5:c.1385G>A	ENSP00000355865.1:p.Trp462Ter
ENST00000479615.5:c.*161G>A	ENSP00000434414.1:n.*161G>A
ENST00000610470.4:c.518G>A	ENSP00000483773.1:p.Trp173Ter
NM_004562.2:c.1385G>A	NP_004553.2:p.Trp462Ter
NM_013987.2:c.1301G>A	NP_054642.2:p.Trp434Ter
NM_013988.2:c.938G>A	NP_054643.2:p.Trp313Ter
XM_011535863.1:c.1382G>A	XP_011534165.1:p.Trp461Ter
XM_017010908.1:c.1499G>A	XP_016866397.1:p.Trp500Ter
XM_017010909.2:c.1145G>A	XP_016866398.1:p.Trp382Ter
XM_024446449.1:c.1148G>A	XP_024302217.1:p.Trp383Ter
XR_001743443.2:n.1577G>A
NM_004562.3:c.1385G>A MANE Select	NP_004553.2:p.Trp462Ter
NM_013987.3:c.1301G>A	NP_054642.2:p.Trp434Ter
NM_013988.3:c.938G>A	NP_054643.2:p.Trp313Ter