Canonical Allele Identifier: CA12333812
Gene: CEP85L HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118486684C>T , CM000668.2:g.118486684C>T GRCh38
NC_000006.11:g.118807847C>T , CM000668.1:g.118807847C>T GRCh37
NC_000006.10:g.118914540C>T NCBI36
NG_021248.1:g.228392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368491.8:c.1438-2826G>A MANE Select ENSP00000357477.3:n.1438-2826G>A
ENST00000368488.9:c.1447-2826G>A ENSP00000357474.5:n.1447-2826G>A
ENST00000368491.7:c.1438-2826G>A ENSP00000357477.3:n.1438-2826G>A
ENST00000434604.5:c.1447-2826G>A ENSP00000392131.1:n.1447-2826G>A
NM_001042475.2:c.1438-2826G>A NP_001035940.1:n.1438-2826G>A
NM_001178035.1:c.1447-2826G>A NP_001171506.1:n.1447-2826G>A
XM_005266970.1:c.1132-2826G>A XP_005267027.1:n.1132-2826G>A
XM_005266971.1:c.1132-2826G>A XP_005267028.1:n.1132-2826G>A
XM_005266972.3:c.352-2826G>A XP_005267029.1:n.352-2826G>A
XM_006715475.2:c.1132-2826G>A XP_006715538.1:n.1132-2826G>A
XM_011535808.1:c.1447-2826G>A XP_011534110.1:n.1447-2826G>A
XM_011535809.1:c.1438-2826G>A XP_011534111.1:n.1438-2826G>A
XM_011535810.1:c.1267-2826G>A XP_011534112.1:n.1267-2826G>A
XM_011535811.1:c.1132-2826G>A XP_011534113.1:n.1132-2826G>A
XM_011535812.1:c.352-2826G>A XP_011534114.1:n.352-2826G>A
XR_942927.1:n.1641C>T
XM_005266972.4:c.352-2826G>A XP_005267029.1:n.352-2826G>A
XM_006715475.4:c.1132-2826G>A XP_006715538.1:n.1132-2826G>A
XM_011535809.2:c.1438-2826G>A XP_011534111.1:n.1438-2826G>A
XM_011535810.2:c.1267-2826G>A XP_011534112.1:n.1267-2826G>A
XM_017010846.1:c.1447-2826G>A XP_016866335.1:n.1447-2826G>A
XM_024446429.1:c.1438-2826G>A XP_024302197.1:n.1438-2826G>A
XM_024446430.1:c.1258-2826G>A XP_024302198.1:n.1258-2826G>A
XR_001743824.2:n.2358C>T
NM_001042475.3:c.1438-2826G>A MANE Select NP_001035940.1:n.1438-2826G>A
NM_001178035.2:c.1447-2826G>A NP_001171506.1:n.1447-2826G>A
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