Canonical Allele Identifier: CA366456238

Gene: PRKN

Linked Data

• MyVariant Identifiers: chr6:g.161771183C>G (hg19) ; chr6:g.161350151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350151C>G , CM000668.2:g.161350151C>G	GRCh38
NC_000006.11:g.161771183C>G , CM000668.1:g.161771183C>G	GRCh37
NC_000006.10:g.161691173C>G	NCBI36
NG_008289.1:g.1382652G>C
NG_008289.2:g.1382652G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1224G>C	ENSP00000343589.4:n.1224G>C
ENST00000366894.6:c.1105G>C	ENSP00000355860.2:n.1105G>C
ENST00000366898.6:c.1346G>C MANE Select	ENSP00000355865.1:p.Cys449Ser
ENST00000673871.1:c.1427G>C
ENST00000674006.1:n.731G>C
ENST00000674436.1:n.982G>C
ENST00000338468.7:c.773G>C	ENSP00000343589.3:p.Cys258Ser
ENST00000366894.5:c.773G>C	ENSP00000355860.1:p.Cys258Ser
ENST00000366896.5:c.899G>C	ENSP00000355862.1:p.Cys300Ser
ENST00000366897.5:c.1262G>C	ENSP00000355863.1:p.Cys421Ser
ENST00000366898.5:c.1346G>C	ENSP00000355865.1:p.Cys449Ser
ENST00000479615.5:c.*122G>C	ENSP00000434414.1:n.*122G>C
ENST00000610470.4:c.479G>C	ENSP00000483773.1:p.Cys160Ser
NM_004562.2:c.1346G>C	NP_004553.2:p.Cys449Ser
NM_013987.2:c.1262G>C	NP_054642.2:p.Cys421Ser
NM_013988.2:c.899G>C	NP_054643.2:p.Cys300Ser
XM_011535863.1:c.1343G>C	XP_011534165.1:p.Cys448Ser
XM_017010908.1:c.1460G>C	XP_016866397.1:p.Cys487Ser
XM_017010909.2:c.1106G>C	XP_016866398.1:p.Cys369Ser
XM_024446449.1:c.1109G>C	XP_024302217.1:p.Cys370Ser
XR_001743443.2:n.1538G>C
NM_004562.3:c.1346G>C MANE Select	NP_004553.2:p.Cys449Ser
NM_013987.3:c.1262G>C	NP_054642.2:p.Cys421Ser
NM_013988.3:c.899G>C	NP_054643.2:p.Cys300Ser