Canonical Allele Identifier: CA366465676

Gene: PRKN

Linked Data

• dbSNP Id: rs1174733303
• gnomAD v2: 6-162206916-G-C
• gnomAD v4: 6-161785884-G-C
• MyVariant Identifiers: chr6:g.162206916G>C (hg19) ; chr6:g.161785884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785884G>C , CM000668.2:g.161785884G>C	GRCh38
NC_000006.11:g.162206916G>C , CM000668.1:g.162206916G>C	GRCh37
NC_000006.10:g.162126906G>C	NCBI36
NG_008289.1:g.946919C>G
NG_008289.2:g.946919C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.637C>G	ENSP00000343589.4:n.637C>G
ENST00000366894.6:c.518C>G	ENSP00000355860.2:n.518C>G
ENST00000366898.6:c.759C>G MANE Select	ENSP00000355865.1:p.Cys253Trp
ENST00000673871.1:c.754C>G
ENST00000674006.1:n.144C>G
ENST00000674436.1:n.395C>G
ENST00000674501.1:n.866C>G
ENST00000338468.7:c.186C>G	ENSP00000343589.3:p.Cys62Trp
ENST00000366892.5:c.759C>G	ENSP00000355858.1:p.Cys253Trp
ENST00000366894.5:c.186C>G	ENSP00000355860.1:p.Cys62Trp
ENST00000366896.5:c.312C>G	ENSP00000355862.1:p.Cys104Trp
ENST00000366897.5:c.675C>G	ENSP00000355863.1:p.Cys225Trp
ENST00000366898.5:c.759C>G	ENSP00000355865.1:p.Cys253Trp
ENST00000479615.5:c.522C>G	ENSP00000434414.1:p.Cys174Trp
NM_004562.2:c.759C>G	NP_004553.2:p.Cys253Trp
NM_013987.2:c.675C>G	NP_054642.2:p.Cys225Trp
NM_013988.2:c.312C>G	NP_054643.2:p.Cys104Trp
XM_011535863.1:c.756C>G	XP_011534165.1:p.Cys252Trp
XM_011535864.1:c.759C>G	XP_011534166.1:p.Cys253Trp
XM_011535865.1:c.759C>G	XP_011534167.1:p.Cys253Trp
XM_017010908.1:c.873C>G	XP_016866397.1:p.Cys291Trp
XM_017010909.2:c.519C>G	XP_016866398.1:p.Cys173Trp
XM_024446449.1:c.522C>G	XP_024302217.1:p.Cys174Trp
XR_001743443.2:n.865C>G
NM_004562.3:c.759C>G MANE Select	NP_004553.2:p.Cys253Trp
NM_013987.3:c.675C>G	NP_054642.2:p.Cys225Trp
NM_013988.3:c.312C>G	NP_054643.2:p.Cys104Trp