Canonical Allele Identifier: CA382452987
Gene: CEP126 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.101963076G>A
GRCh37 chr11:g.101833807G>A
Revel Score:
ENST00000263468 (MANE Select) 0.022
ENST00000537689 0.022
gnomAD v2:
11:101833807 G / A
gnomAD v3:
11:101963076 G / A
gnomAD v4:
chr11-101963076-G-A
Joint Max Group AF 0.00003233 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00002374 (AFR)
ClinVar RCV:
RCV004141838
ClinVar Variation:
2289833
dbSNP:
1222290904
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101963076G>A , CM000673.2:g.101963076G>A GRCh38
NC_000011.9:g.101833807G>A , CM000673.1:g.101833807G>A GRCh37
NC_000011.8:g.101339017G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263468.13:c.2041G>A MANE Select ENSP00000263468.8:p.Val681Ile
ENST00000670091.1:c.*2084G>A ENSP00000499679.1:n.*2084G>A
ENST00000670318.1:c.*1553G>A ENSP00000499404.1:n.*1553G>A
ENST00000263468.12:c.2041G>A ENSP00000263468.8:p.Val681Ile
ENST00000532529.1:c.2835G>A
NM_020802.3:c.2041G>A NP_065853.3:p.Val681Ile
XM_005271627.3:c.2041G>A XP_005271684.2:p.Val681Ile
NM_001363543.1:c.1444G>A NP_001350472.1:p.Val482Ile
XM_005271627.5:c.2041G>A XP_005271684.2:p.Val681Ile
NM_001363543.2:c.1444G>A NP_001350472.1:p.Val482Ile
NM_020802.4:c.2041G>A MANE Select NP_065853.3:p.Val681Ile
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