Canonical Allele Identifier: CA344225
Gene: PRKN HGNC NCBI
COSMIC:
COSM4987725 (not active)
MyVariant.info:
GRCh38 chr6:g.161360193C>T
GRCh37 chr6:g.161781225C>T
Revel Score:
ENST00000366898 (MANE Select) 0.291
ENST00000366897 0.291
ENST00000366896 0.291
ENST00000366894 0.291
ENST00000338468 0.291
gnomAD v2:
6:161781225 C / T
gnomAD v3:
6:161360193 C / T
gnomAD v4:
chr6-161360193-C-T
Joint Max Group AF 0.04027836 (NFE)
Genomes Max Group AF 0.03657617 (NFE)
Exomes Max Group AF 0.0404397 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161360193C>T , CM000668.2:g.161360193C>T GRCh38
NC_000006.11:g.161781225C>T , CM000668.1:g.161781225C>T GRCh37
NC_000006.10:g.161701215C>T NCBI36
NG_008289.1:g.1372610G>A
NG_008289.2:g.1372610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.1058G>A ENSP00000343589.4:n.1058G>A
ENST00000366894.6:c.939G>A ENSP00000355860.2:n.939G>A
ENST00000366898.6:c.1180G>A MANE Select ENSP00000355865.1:p.Asp394Asn
ENST00000673871.1:c.1261G>A
ENST00000674006.1:n.565G>A
ENST00000674436.1:n.816G>A
ENST00000338468.7:c.607G>A ENSP00000343589.3:p.Asp203Asn
ENST00000366894.5:c.607G>A ENSP00000355860.1:p.Asp203Asn
ENST00000366896.5:c.733G>A ENSP00000355862.1:p.Asp245Asn
ENST00000366897.5:c.1096G>A ENSP00000355863.1:p.Asp366Asn
ENST00000366898.5:c.1180G>A ENSP00000355865.1:p.Asp394Asn
ENST00000479615.5:c.*62-9982G>A ENSP00000434414.1:n.*62-9982G>A
ENST00000610470.4:c.313G>A ENSP00000483773.1:p.Asp105Asn
NM_004562.2:c.1180G>A NP_004553.2:p.Asp394Asn
NM_013987.2:c.1096G>A NP_054642.2:p.Asp366Asn
NM_013988.2:c.733G>A NP_054643.2:p.Asp245Asn
XM_011535863.1:c.1177G>A XP_011534165.1:p.Asp393Asn
XM_017010908.1:c.1294G>A XP_016866397.1:p.Asp432Asn
XM_017010909.2:c.940G>A XP_016866398.1:p.Asp314Asn
XM_024446449.1:c.943G>A XP_024302217.1:p.Asp315Asn
XR_001743443.2:n.1372G>A
NM_004562.3:c.1180G>A MANE Select NP_004553.2:p.Asp394Asn
NM_013987.3:c.1096G>A NP_054642.2:p.Asp366Asn
NM_013988.3:c.733G>A NP_054643.2:p.Asp245Asn
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