Canonical Allele Identifier: CA366456148

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771144C>G (hg19) ; chr6:g.161350112C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1263G>C	ENSP00000343589.4:n.1263G>C
ENST00000366894.6:c.1144G>C	ENSP00000355860.2:n.1144G>C
ENST00000366898.6:c.1385G>C MANE Select	ENSP00000355865.1:p.Trp462Ser
ENST00000673871.1:c.1466G>C
ENST00000674006.1:n.770G>C
ENST00000674436.1:n.1021G>C
ENST00000338468.7:c.812G>C	ENSP00000343589.3:p.Trp271Ser
ENST00000366894.5:c.812G>C	ENSP00000355860.1:p.Trp271Ser
ENST00000366896.5:c.938G>C	ENSP00000355862.1:p.Trp313Ser
ENST00000366897.5:c.1301G>C	ENSP00000355863.1:p.Trp434Ser
ENST00000366898.5:c.1385G>C	ENSP00000355865.1:p.Trp462Ser
ENST00000479615.5:c.*161G>C	ENSP00000434414.1:n.*161G>C
ENST00000610470.4:c.518G>C	ENSP00000483773.1:p.Trp173Ser
NM_004562.2:c.1385G>C	NP_004553.2:p.Trp462Ser
NM_013987.2:c.1301G>C	NP_054642.2:p.Trp434Ser
NM_013988.2:c.938G>C	NP_054643.2:p.Trp313Ser
XM_011535863.1:c.1382G>C	XP_011534165.1:p.Trp461Ser
XM_017010908.1:c.1499G>C	XP_016866397.1:p.Trp500Ser
XM_017010909.2:c.1145G>C	XP_016866398.1:p.Trp382Ser
XM_024446449.1:c.1148G>C	XP_024302217.1:p.Trp383Ser
XR_001743443.2:n.1577G>C
NM_004562.3:c.1385G>C MANE Select	NP_004553.2:p.Trp462Ser
NM_013987.3:c.1301G>C	NP_054642.2:p.Trp434Ser
NM_013988.3:c.938G>C	NP_054643.2:p.Trp313Ser