Canonical Allele Identifier: CA256917
Gene: PLN HGNC NCBI
CEP85L HGNC NCBI

Linked Data

ClinVar Variation Id: 13636
ClinVar RCV Id: RCV000014606 RCV000183815 RCV000211844 RCV000769213
dbSNP Id: rs111033559
gnomAD v4: 6-118558946-C-T
MyVariant Identifiers: chr6:g.118880109C>T (hg19) chr6:g.118558946C>T (hg38)
PubMed: PMID:12610310 PMID:18056057 PMID:19139388 PMID:21282613 PMID:22427649 PMID:22707725 PMID:23308118 PMID:25593317 PMID:25928149
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118558946C>T , CM000668.2:g.118558946C>T GRCh38
NC_000006.11:g.118880109C>T , CM000668.1:g.118880109C>T GRCh37
NC_000006.10:g.118986802C>T NCBI36
NG_009082.1:g.15668C>T , LRG_390:g.15668C>T
NG_021248.1:g.156130G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357525.6:c.25C>T (PLN) MANE Select ENSP00000350132.5:p.Arg9Cys
ENST00000368491.8:c.1020+6583G>A (CEP85L) MANE Select ENSP00000357477.3:n.1020+6583G>A
ENST00000357525.5:c.25C>T (PLN) ENSP00000350132.5:p.Arg9Cys
ENST00000360290.7:c.714+6583G>A (CEP85L) ENSP00000353434.3:n.714+6583G>A
ENST00000368488.9:c.1029+6583G>A (CEP85L) ENSP00000357474.5:n.1029+6583G>A
ENST00000368491.7:c.1020+6583G>A (CEP85L) ENSP00000357477.3:n.1020+6583G>A
ENST00000392500.7:c.1029+6583G>A (CEP85L) ENSP00000376288.3:n.1029+6583G>A
ENST00000419517.2:c.1020+6583G>A (CEP85L) ENSP00000393317.2:n.1020+6583G>A
ENST00000434604.5:c.1029+6583G>A (CEP85L) ENSP00000392131.1:n.1029+6583G>A
NM_001042475.2:c.1020+6583G>A (CEP85L) NP_001035940.1:n.1020+6583G>A
NM_001178035.1:c.1029+6583G>A (CEP85L) NP_001171506.1:n.1029+6583G>A
NM_002667.3:c.25C>T , LRG_390t1:c.25C>T (PLN) NP_002658.1:p.Arg9Cys
NM_206921.2:c.1020+6583G>A (CEP85L) NP_996804.2:n.1020+6583G>A
XM_005266970.1:c.714+6583G>A (CEP85L) XP_005267027.1:n.714+6583G>A
XM_005266971.1:c.714+6583G>A (CEP85L) XP_005267028.1:n.714+6583G>A
XM_006715475.2:c.714+6583G>A (CEP85L) XP_006715538.1:n.714+6583G>A
XM_011535808.1:c.1029+6583G>A (CEP85L) XP_011534110.1:n.1029+6583G>A
XM_011535809.1:c.1020+6583G>A (CEP85L) XP_011534111.1:n.1020+6583G>A
XM_011535810.1:c.1029+6583G>A (CEP85L) XP_011534112.1:n.1029+6583G>A
XM_011535811.1:c.714+6583G>A (CEP85L) XP_011534113.1:n.714+6583G>A
XM_011535812.1:c.-67+4990G>A (CEP85L) XP_011534114.1:n.-67+4990G>A
NM_002667.4:c.25C>T (PLN) NP_002658.1:p.Arg9Cys
XM_006715475.4:c.714+6583G>A (CEP85L) XP_006715538.1:n.714+6583G>A
XM_011535809.2:c.1020+6583G>A (CEP85L) XP_011534111.1:n.1020+6583G>A
XM_011535810.2:c.1029+6583G>A (CEP85L) XP_011534112.1:n.1029+6583G>A
XM_017010846.1:c.1029+6583G>A (CEP85L) XP_016866335.1:n.1029+6583G>A
XM_024446429.1:c.1020+6583G>A (CEP85L) XP_024302197.1:n.1020+6583G>A
XM_024446430.1:c.1020+6583G>A (CEP85L) XP_024302198.1:n.1020+6583G>A
NM_001042475.3:c.1020+6583G>A (CEP85L) MANE Select NP_001035940.1:n.1020+6583G>A
NM_002667.5:c.25C>T (PLN) MANE Select NP_002658.1:p.Arg9Cys
NM_206921.3:c.1020+6583G>A (CEP85L) NP_996804.2:n.1020+6583G>A
NM_001178035.2:c.1029+6583G>A (CEP85L) NP_001171506.1:n.1029+6583G>A
Search 100 bp 5'
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