Canonical Allele Identifier: CA12216692
Gene: PRKN HGNC NCBI
COSMIC:
COSN14918169 (not active)
MyVariant.info:
GRCh38 chr6:g.161575338C>T
GRCh37 chr6:g.161996370C>T
gnomAD v2:
6:161996370 C / T
gnomAD v3:
6:161575338 C / T
gnomAD v4:
chr6-161575338-C-T
Joint Max Group AF 0.75250059 (AFR)
Genomes Max Group AF 0.75250059 (AFR)
dbSNP:
7755681
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161575338C>T , CM000668.2:g.161575338C>T GRCh38
NC_000006.11:g.161996370C>T , CM000668.1:g.161996370C>T GRCh37
NC_000006.10:g.161916360C>T NCBI36
NG_008289.1:g.1157465G>A
NG_008289.2:g.1157465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.750-5922G>A ENSP00000343589.4:n.750-5922G>A
ENST00000366894.6:c.631-5922G>A ENSP00000355860.2:n.631-5922G>A
ENST00000366898.6:c.872-5922G>A MANE Select ENSP00000355865.1:n.872-5922G>A
ENST00000673871.1:c.867-5922G>A
ENST00000674006.1:n.257-5922G>A
ENST00000674436.1:n.508-5922G>A
ENST00000674501.1:n.979-5922G>A
ENST00000338468.7:c.299-5922G>A ENSP00000343589.3:n.299-5922G>A
ENST00000366892.5:c.872-5922G>A ENSP00000355858.1:n.872-5922G>A
ENST00000366894.5:c.299-5922G>A ENSP00000355860.1:n.299-5922G>A
ENST00000366896.5:c.425-5922G>A ENSP00000355862.1:n.425-5922G>A
ENST00000366897.5:c.788-5922G>A ENSP00000355863.1:n.788-5922G>A
ENST00000366898.5:c.872-5922G>A ENSP00000355865.1:n.872-5922G>A
ENST00000479615.5:c.635-188461G>A ENSP00000434414.1:n.635-188461G>A
NM_004562.2:c.872-5922G>A NP_004553.2:n.872-5922G>A
NM_013987.2:c.788-5922G>A NP_054642.2:n.788-5922G>A
NM_013988.2:c.425-5922G>A NP_054643.2:n.425-5922G>A
XM_011535863.1:c.869-5922G>A XP_011534165.1:n.869-5922G>A
XM_011535864.1:c.872-5922G>A XP_011534166.1:n.872-5922G>A
XM_011535865.1:c.872-5922G>A XP_011534167.1:n.872-5922G>A
XM_017010908.1:c.986-5922G>A XP_016866397.1:n.986-5922G>A
XM_017010909.2:c.632-5922G>A XP_016866398.1:n.632-5922G>A
XM_024446449.1:c.635-5922G>A XP_024302217.1:n.635-5922G>A
XR_001743443.2:n.978-5922G>A
NM_004562.3:c.872-5922G>A MANE Select NP_004553.2:n.872-5922G>A
NM_013987.3:c.788-5922G>A NP_054642.2:n.788-5922G>A
NM_013988.3:c.425-5922G>A NP_054643.2:n.425-5922G>A
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