Canonical Allele Identifier: CA369288683
Community Standard Title: NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130402676A>C , CM000669.2:g.130402676A>C GRCh38
NC_000007.13:g.130042517A>C , CM000669.1:g.130042517A>C GRCh37
NC_000007.12:g.129829753A>C NCBI36
NG_032164.1:g.43535T>G
NG_032164.2:g.43535T>G

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.546T>G MANE Select NP_061188.1:p.Asp182Glu
ENST00000223208.10:c.546T>G MANE Select ENSP00000223208.4:p.Asp182Glu
NM_001257158.1:c.546T>G NP_001244087.1:p.Asp182Glu
NM_001257158.2:c.546T>G NP_001244087.1:p.Asp182Glu
NM_001257159.1:c.498T>G NP_001244088.1:p.Asp166Glu
NM_001257159.2:c.498T>G NP_001244088.1:p.Asp166Glu
NM_018718.2:c.546T>G NP_061188.1:p.Asp182Glu
NR_046443.1:n.714T>G
NR_046443.2:n.520T>G
ENST00000223208.9:c.546T>G ENSP00000223208.4:p.Asp182Glu
ENST00000343969.10:c.546T>G ENSP00000342738.6:p.Asp182Glu
ENST00000343969.9:c.546T>G ENSP00000342738.5:p.Asp182Glu
ENST00000471201.6:c.759T>G ENSP00000417463.2:p.Asp253Glu
ENST00000472739.5:c.441T>G ENSP00000417593.1:p.Asp147Glu
ENST00000472739.6:c.441T>G ENSP00000417593.2:p.Asp147Glu
ENST00000475282.6:c.441T>G ENSP00000418363.2:p.Asp147Glu
ENST00000477003.5:c.537T>G ENSP00000420670.1:p.Asp179Glu
ENST00000477003.6:c.*148T>G ENSP00000420670.2:n.*148T>G
ENST00000480206.1:n.11T>G
ENST00000480206.2:c.546T>G ENSP00000502099.1:p.Asp182Glu
ENST00000484549.5:c.*92T>G ENSP00000419078.1:n.*92T>G
ENST00000484549.6:c.*718T>G ENSP00000419078.2:n.*718T>G
ENST00000492389.5:c.441T>G ENSP00000419192.1:p.Asp147Glu
ENST00000492389.6:c.566T>G ENSP00000419192.2:n.566T>G
ENST00000541543.5:c.498T>G ENSP00000445888.1:p.Asp166Glu
ENST00000541543.6:c.537T>G ENSP00000445888.2:p.Asp179Glu
ENST00000674539.1:c.422+1888T>G ENSP00000502834.1:n.422+1888T>G
ENST00000674630.1:c.*92T>G ENSP00000502521.1:n.*92T>G
ENST00000675138.1:c.591T>G ENSP00000501597.1:p.Asp197Glu
ENST00000675168.1:c.498T>G ENSP00000501563.1:p.Asp166Glu
ENST00000675328.1:n.356T>G
ENST00000675542.1:n.511T>G
ENST00000675563.1:c.-64T>G ENSP00000502483.1:n.-64T>G
ENST00000675596.1:c.546T>G ENSP00000501735.1:p.Asp182Glu
ENST00000675649.1:c.546T>G ENSP00000502385.1:p.Asp182Glu
ENST00000675721.1:c.*489T>G ENSP00000502026.1:n.*489T>G
ENST00000675803.1:c.507T>G ENSP00000502477.1:p.Asp169Glu
ENST00000675813.1:c.*450T>G ENSP00000502785.1:n.*450T>G
ENST00000675935.1:c.537T>G ENSP00000501731.1:p.Asp179Glu
ENST00000675962.1:c.498T>G ENSP00000502478.1:p.Asp166Glu
ENST00000676115.1:c.*467T>G ENSP00000502631.1:n.*467T>G
ENST00000676243.1:c.546T>G ENSP00000501717.1:p.Asp182Glu
ENST00000676312.1:c.507T>G ENSP00000502312.1:p.Asp169Glu
XM_011516708.1:c.591T>G XP_011515010.1:p.Asp197Glu
XM_011516709.1:c.441T>G XP_011515011.1:p.Asp147Glu
XM_011516709.3:c.441T>G XP_011515011.1:p.Asp147Glu
XM_011516710.1:c.441T>G XP_011515012.1:p.Asp147Glu
XM_011516710.3:c.441T>G XP_011515012.1:p.Asp147Glu
XM_011516711.1:c.441T>G XP_011515013.1:p.Asp147Glu
XM_011516712.1:c.591T>G XP_011515014.1:p.Asp197Glu
XM_024447004.1:c.507T>G XP_024302772.1:p.Asp169Glu