Canonical Allele Identifier: CA366465724

Gene: PRKN

Linked Data

• dbSNP Id: rs2128206692
• MyVariant Identifiers: chr6:g.162206938C>G (hg19) ; chr6:g.161785906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785906C>G , CM000668.2:g.161785906C>G	GRCh38
NC_000006.11:g.162206938C>G , CM000668.1:g.162206938C>G	GRCh37
NC_000006.10:g.162126928C>G	NCBI36
NG_008289.1:g.946897G>C
NG_008289.2:g.946897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.615G>C	ENSP00000343589.4:n.615G>C
ENST00000366894.6:c.496G>C	ENSP00000355860.2:n.496G>C
ENST00000366898.6:c.737G>C MANE Select	ENSP00000355865.1:p.Ser246Thr
ENST00000673871.1:c.732G>C
ENST00000674006.1:n.122G>C
ENST00000674436.1:n.373G>C
ENST00000674501.1:n.844G>C
ENST00000338468.7:c.164G>C	ENSP00000343589.3:p.Ser55Thr
ENST00000366892.5:c.737G>C	ENSP00000355858.1:p.Ser246Thr
ENST00000366894.5:c.164G>C	ENSP00000355860.1:p.Ser55Thr
ENST00000366896.5:c.290G>C	ENSP00000355862.1:p.Ser97Thr
ENST00000366897.5:c.653G>C	ENSP00000355863.1:p.Ser218Thr
ENST00000366898.5:c.737G>C	ENSP00000355865.1:p.Ser246Thr
ENST00000479615.5:c.500G>C	ENSP00000434414.1:p.Ser167Thr
NM_004562.2:c.737G>C	NP_004553.2:p.Ser246Thr
NM_013987.2:c.653G>C	NP_054642.2:p.Ser218Thr
NM_013988.2:c.290G>C	NP_054643.2:p.Ser97Thr
XM_011535863.1:c.734G>C	XP_011534165.1:p.Ser245Thr
XM_011535864.1:c.737G>C	XP_011534166.1:p.Ser246Thr
XM_011535865.1:c.737G>C	XP_011534167.1:p.Ser246Thr
XM_017010908.1:c.851G>C	XP_016866397.1:p.Ser284Thr
XM_017010909.2:c.497G>C	XP_016866398.1:p.Ser166Thr
XM_024446449.1:c.500G>C	XP_024302217.1:p.Ser167Thr
XR_001743443.2:n.843G>C
NM_004562.3:c.737G>C MANE Select	NP_004553.2:p.Ser246Thr
NM_013987.3:c.653G>C	NP_054642.2:p.Ser218Thr
NM_013988.3:c.290G>C	NP_054643.2:p.Ser97Thr