Canonical Allele Identifier: CA4090236

Gene: PRKN

Linked Data

• ClinVar Variation Id: 409267
• ClinVar RCV Id: RCV000469518 ; RCV001304995
• dbSNP Id: rs139600787
• ExAC: 6:162206914 T / C
• gnomAD v2: 6-162206914-T-C
• gnomAD v3: 6-161785882-T-C
• gnomAD v4: 6-161785882-T-C
• MyVariant Identifiers: chr6:g.162206914T>C (hg19) ; chr6:g.161785882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785882T>C , CM000668.2:g.161785882T>C	GRCh38
NC_000006.11:g.162206914T>C , CM000668.1:g.162206914T>C	GRCh37
NC_000006.10:g.162126904T>C	NCBI36
NG_008289.1:g.946921A>G
NG_008289.2:g.946921A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.639A>G	ENSP00000343589.4:n.639A>G
ENST00000366894.6:c.520A>G	ENSP00000355860.2:n.520A>G
ENST00000366898.6:c.761A>G MANE Select	ENSP00000355865.1:p.Asn254Ser
ENST00000673871.1:c.756A>G
ENST00000674006.1:n.146A>G
ENST00000674436.1:n.397A>G
ENST00000674501.1:n.868A>G
ENST00000338468.7:c.188A>G	ENSP00000343589.3:p.Asn63Ser
ENST00000366892.5:c.761A>G	ENSP00000355858.1:p.Asn254Ser
ENST00000366894.5:c.188A>G	ENSP00000355860.1:p.Asn63Ser
ENST00000366896.5:c.314A>G	ENSP00000355862.1:p.Asn105Ser
ENST00000366897.5:c.677A>G	ENSP00000355863.1:p.Asn226Ser
ENST00000366898.5:c.761A>G	ENSP00000355865.1:p.Asn254Ser
ENST00000479615.5:c.524A>G	ENSP00000434414.1:p.Asn175Ser
NM_004562.2:c.761A>G	NP_004553.2:p.Asn254Ser
NM_013987.2:c.677A>G	NP_054642.2:p.Asn226Ser
NM_013988.2:c.314A>G	NP_054643.2:p.Asn105Ser
XM_011535863.1:c.758A>G	XP_011534165.1:p.Asn253Ser
XM_011535864.1:c.761A>G	XP_011534166.1:p.Asn254Ser
XM_011535865.1:c.761A>G	XP_011534167.1:p.Asn254Ser
XM_017010908.1:c.875A>G	XP_016866397.1:p.Asn292Ser
XM_017010909.2:c.521A>G	XP_016866398.1:p.Asn174Ser
XM_024446449.1:c.524A>G	XP_024302217.1:p.Asn175Ser
XR_001743443.2:n.867A>G
NM_004562.3:c.761A>G MANE Select	NP_004553.2:p.Asn254Ser
NM_013987.3:c.677A>G	NP_054642.2:p.Asn226Ser
NM_013988.3:c.314A>G	NP_054643.2:p.Asn105Ser