Canonical Allele Identifier: CA366456156

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771147T>G (hg19) ; chr6:g.161350115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350115T>G , CM000668.2:g.161350115T>G	GRCh38
NC_000006.11:g.161771147T>G , CM000668.1:g.161771147T>G	GRCh37
NC_000006.10:g.161691137T>G	NCBI36
NG_008289.1:g.1382688A>C
NG_008289.2:g.1382688A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1260A>C	ENSP00000343589.4:n.1260A>C
ENST00000366894.6:c.1141A>C	ENSP00000355860.2:n.1141A>C
ENST00000366898.6:c.1382A>C MANE Select	ENSP00000355865.1:p.His461Pro
ENST00000673871.1:c.1463A>C
ENST00000674006.1:n.767A>C
ENST00000674436.1:n.1018A>C
ENST00000338468.7:c.809A>C	ENSP00000343589.3:p.His270Pro
ENST00000366894.5:c.809A>C	ENSP00000355860.1:p.His270Pro
ENST00000366896.5:c.935A>C	ENSP00000355862.1:p.His312Pro
ENST00000366897.5:c.1298A>C	ENSP00000355863.1:p.His433Pro
ENST00000366898.5:c.1382A>C	ENSP00000355865.1:p.His461Pro
ENST00000479615.5:c.*158A>C	ENSP00000434414.1:n.*158A>C
ENST00000610470.4:c.515A>C	ENSP00000483773.1:p.His172Pro
NM_004562.2:c.1382A>C	NP_004553.2:p.His461Pro
NM_013987.2:c.1298A>C	NP_054642.2:p.His433Pro
NM_013988.2:c.935A>C	NP_054643.2:p.His312Pro
XM_011535863.1:c.1379A>C	XP_011534165.1:p.His460Pro
XM_017010908.1:c.1496A>C	XP_016866397.1:p.His499Pro
XM_017010909.2:c.1142A>C	XP_016866398.1:p.His381Pro
XM_024446449.1:c.1145A>C	XP_024302217.1:p.His382Pro
XR_001743443.2:n.1574A>C
NM_004562.3:c.1382A>C MANE Select	NP_004553.2:p.His461Pro
NM_013987.3:c.1298A>C	NP_054642.2:p.His433Pro
NM_013988.3:c.935A>C	NP_054643.2:p.His312Pro