Canonical Allele Identifier: CA16277797
Gene: CEP85L HGNC NCBI
COSMIC:
COSN14977132 (not active)
MyVariant.info:
GRCh38 chr6:g.118672469C>A
GRCh37 chr6:g.118993632C>A
gnomAD v2:
6:118993632 C / A
gnomAD v3:
6:118672469 C / A
gnomAD v4:
chr6-118672469-C-A
Joint Max Group AF 0.46558865 (NFE)
Genomes Max Group AF 0.46558865 (NFE)
dbSNP:
11756438
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118672469C>A , CM000668.2:g.118672469C>A GRCh38
NC_000006.11:g.118993632C>A , CM000668.1:g.118993632C>A GRCh37
NC_000006.10:g.119100325C>A NCBI36
NG_021248.1:g.42607G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368488.9:c.-27-19661G>T ENSP00000357474.5:n.-27-19661G>T
ENST00000392500.7:c.-138-7948G>T ENSP00000376288.3:n.-138-7948G>T
ENST00000434604.5:c.-27-19661G>T ENSP00000392131.1:n.-27-19661G>T
NM_001178035.1:c.-27-19661G>T NP_001171506.1:n.-27-19661G>T
XM_011535811.1:c.-234+37567G>T XP_011534113.1:n.-234+37567G>T
XR_942917.1:n.544+7319C>A
XR_942918.1:n.545-6775C>A
XM_011535810.2:c.-138-7948G>T XP_011534112.1:n.-138-7948G>T
XM_017010846.1:c.-138-7948G>T XP_016866335.1:n.-138-7948G>T
XM_024446429.1:c.-1650-7948G>T XP_024302197.1:n.-1650-7948G>T
XM_024446430.1:c.-1650-7948G>T XP_024302198.1:n.-1650-7948G>T
NM_001178035.2:c.-27-19661G>T NP_001171506.1:n.-27-19661G>T
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