Canonical Allele Identifier: CA366456128

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771137G>C (hg19) ; chr6:g.161350105G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350105G>C , CM000668.2:g.161350105G>C	GRCh38
NC_000006.11:g.161771137G>C , CM000668.1:g.161771137G>C	GRCh37
NC_000006.10:g.161691127G>C	NCBI36
NG_008289.1:g.1382698C>G
NG_008289.2:g.1382698C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1270C>G	ENSP00000343589.4:n.1270C>G
ENST00000366894.6:c.1151C>G	ENSP00000355860.2:n.1151C>G
ENST00000366898.6:c.1392C>G MANE Select	ENSP00000355865.1:p.Asp464Glu
ENST00000673871.1:c.1473C>G
ENST00000674006.1:n.777C>G
ENST00000674436.1:n.1028C>G
ENST00000338468.7:c.819C>G	ENSP00000343589.3:p.Asp273Glu
ENST00000366894.5:c.819C>G	ENSP00000355860.1:p.Asp273Glu
ENST00000366896.5:c.945C>G	ENSP00000355862.1:p.Asp315Glu
ENST00000366897.5:c.1308C>G	ENSP00000355863.1:p.Asp436Glu
ENST00000366898.5:c.1392C>G	ENSP00000355865.1:p.Asp464Glu
ENST00000479615.5:c.*168C>G	ENSP00000434414.1:n.*168C>G
ENST00000610470.4:c.525C>G	ENSP00000483773.1:p.Asp175Glu
NM_004562.2:c.1392C>G	NP_004553.2:p.Asp464Glu
NM_013987.2:c.1308C>G	NP_054642.2:p.Asp436Glu
NM_013988.2:c.945C>G	NP_054643.2:p.Asp315Glu
XM_011535863.1:c.1389C>G	XP_011534165.1:p.Asp463Glu
XM_017010908.1:c.1506C>G	XP_016866397.1:p.Asp502Glu
XM_017010909.2:c.1152C>G	XP_016866398.1:p.Asp384Glu
XM_024446449.1:c.1155C>G	XP_024302217.1:p.Asp385Glu
XR_001743443.2:n.1584C>G
NM_004562.3:c.1392C>G MANE Select	NP_004553.2:p.Asp464Glu
NM_013987.3:c.1308C>G	NP_054642.2:p.Asp436Glu
NM_013988.3:c.945C>G	NP_054643.2:p.Asp315Glu