Canonical Allele Identifier: CA366456150

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771145A>C (hg19) ; chr6:g.161350113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350113A>C , CM000668.2:g.161350113A>C	GRCh38
NC_000006.11:g.161771145A>C , CM000668.1:g.161771145A>C	GRCh37
NC_000006.10:g.161691135A>C	NCBI36
NG_008289.1:g.1382690T>G
NG_008289.2:g.1382690T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1262T>G	ENSP00000343589.4:n.1262T>G
ENST00000366894.6:c.1143T>G	ENSP00000355860.2:n.1143T>G
ENST00000366898.6:c.1384T>G MANE Select	ENSP00000355865.1:p.Trp462Gly
ENST00000673871.1:c.1465T>G
ENST00000674006.1:n.769T>G
ENST00000674436.1:n.1020T>G
ENST00000338468.7:c.811T>G	ENSP00000343589.3:p.Trp271Gly
ENST00000366894.5:c.811T>G	ENSP00000355860.1:p.Trp271Gly
ENST00000366896.5:c.937T>G	ENSP00000355862.1:p.Trp313Gly
ENST00000366897.5:c.1300T>G	ENSP00000355863.1:p.Trp434Gly
ENST00000366898.5:c.1384T>G	ENSP00000355865.1:p.Trp462Gly
ENST00000479615.5:c.*160T>G	ENSP00000434414.1:n.*160T>G
ENST00000610470.4:c.517T>G	ENSP00000483773.1:p.Trp173Gly
NM_004562.2:c.1384T>G	NP_004553.2:p.Trp462Gly
NM_013987.2:c.1300T>G	NP_054642.2:p.Trp434Gly
NM_013988.2:c.937T>G	NP_054643.2:p.Trp313Gly
XM_011535863.1:c.1381T>G	XP_011534165.1:p.Trp461Gly
XM_017010908.1:c.1498T>G	XP_016866397.1:p.Trp500Gly
XM_017010909.2:c.1144T>G	XP_016866398.1:p.Trp382Gly
XM_024446449.1:c.1147T>G	XP_024302217.1:p.Trp383Gly
XR_001743443.2:n.1576T>G
NM_004562.3:c.1384T>G MANE Select	NP_004553.2:p.Trp462Gly
NM_013987.3:c.1300T>G	NP_054642.2:p.Trp434Gly
NM_013988.3:c.937T>G	NP_054643.2:p.Trp313Gly