Canonical Allele Identifier: CA366465708

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.162206930G>C (hg19) ; chr6:g.161785898G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785898G>C , CM000668.2:g.161785898G>C	GRCh38
NC_000006.11:g.162206930G>C , CM000668.1:g.162206930G>C	GRCh37
NC_000006.10:g.162126920G>C	NCBI36
NG_008289.1:g.946905C>G
NG_008289.2:g.946905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.623C>G	ENSP00000343589.4:n.623C>G
ENST00000366894.6:c.504C>G	ENSP00000355860.2:n.504C>G
ENST00000366898.6:c.745C>G MANE Select	ENSP00000355865.1:p.Leu249Val
ENST00000673871.1:c.740C>G
ENST00000674006.1:n.130C>G
ENST00000674436.1:n.381C>G
ENST00000674501.1:n.852C>G
ENST00000338468.7:c.172C>G	ENSP00000343589.3:p.Leu58Val
ENST00000366892.5:c.745C>G	ENSP00000355858.1:p.Leu249Val
ENST00000366894.5:c.172C>G	ENSP00000355860.1:p.Leu58Val
ENST00000366896.5:c.298C>G	ENSP00000355862.1:p.Leu100Val
ENST00000366897.5:c.661C>G	ENSP00000355863.1:p.Leu221Val
ENST00000366898.5:c.745C>G	ENSP00000355865.1:p.Leu249Val
ENST00000479615.5:c.508C>G	ENSP00000434414.1:p.Leu170Val
NM_004562.2:c.745C>G	NP_004553.2:p.Leu249Val
NM_013987.2:c.661C>G	NP_054642.2:p.Leu221Val
NM_013988.2:c.298C>G	NP_054643.2:p.Leu100Val
XM_011535863.1:c.742C>G	XP_011534165.1:p.Leu248Val
XM_011535864.1:c.745C>G	XP_011534166.1:p.Leu249Val
XM_011535865.1:c.745C>G	XP_011534167.1:p.Leu249Val
XM_017010908.1:c.859C>G	XP_016866397.1:p.Leu287Val
XM_017010909.2:c.505C>G	XP_016866398.1:p.Leu169Val
XM_024446449.1:c.508C>G	XP_024302217.1:p.Leu170Val
XR_001743443.2:n.851C>G
NM_004562.3:c.745C>G MANE Select	NP_004553.2:p.Leu249Val
NM_013987.3:c.661C>G	NP_054642.2:p.Leu221Val
NM_013988.3:c.298C>G	NP_054643.2:p.Leu100Val