Canonical Allele Identifier: CA457659762
Community Standard Title: NM_018718.3(CEP41):c.162A>G (p.Lys54=)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130412224T>C , CM000669.2:g.130412224T>C GRCh38
NC_000007.13:g.130052065T>C , CM000669.1:g.130052065T>C GRCh37
NC_000007.12:g.129839301T>C NCBI36
NG_032164.1:g.33987A>G
NG_032164.2:g.33987A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.162A>G MANE Select NP_061188.1:p.Lys54=
ENST00000223208.10:c.162A>G MANE Select ENSP00000223208.4:p.Lys54=
NM_001257158.1:c.162A>G NP_001244087.1:p.Lys54=
NM_001257158.2:c.162A>G NP_001244087.1:p.Lys54=
NM_001257159.1:c.114A>G NP_001244088.1:p.Lys38=
NM_001257159.2:c.114A>G NP_001244088.1:p.Lys38=
NM_018718.2:c.162A>G NP_061188.1:p.Lys54=
NR_046443.1:n.406A>G
NR_046443.2:n.212A>G
ENST00000223208.9:c.162A>G ENSP00000223208.4:p.Lys54=
ENST00000343969.10:c.162A>G ENSP00000342738.6:p.Lys54=
ENST00000343969.9:c.162A>G ENSP00000342738.5:p.Lys54=
ENST00000469826.1:c.123A>G ENSP00000418712.1:p.Lys41=
ENST00000471201.5:c.*66A>G ENSP00000417463.1:n.*66A>G
ENST00000471201.6:c.375A>G ENSP00000417463.2:p.Lys125=
ENST00000472739.5:c.57A>G ENSP00000417593.1:p.Lys19=
ENST00000472739.6:c.57A>G ENSP00000417593.2:p.Lys19=
ENST00000475282.5:c.57A>G ENSP00000418363.1:p.Lys19=
ENST00000475282.6:c.57A>G ENSP00000418363.2:p.Lys19=
ENST00000477003.5:c.153A>G ENSP00000420670.1:p.Lys51=
ENST00000477003.6:c.162A>G ENSP00000420670.2:p.Lys54=
ENST00000480206.2:c.162A>G ENSP00000502099.1:p.Lys54=
ENST00000482730.1:n.133A>G
ENST00000484549.5:c.162A>G ENSP00000419078.1:p.Lys54=
ENST00000484549.6:c.*334A>G ENSP00000419078.2:n.*334A>G
ENST00000492389.5:c.57A>G ENSP00000419192.1:p.Lys19=
ENST00000492389.6:c.182A>G ENSP00000419192.2:n.182A>G
ENST00000498527.5:n.222A>G
ENST00000541543.5:c.114A>G ENSP00000445888.1:p.Lys38=
ENST00000541543.6:c.153A>G ENSP00000445888.2:p.Lys51=
ENST00000674539.1:c.162A>G ENSP00000502834.1:p.Lys54=
ENST00000674630.1:c.162A>G ENSP00000502521.1:p.Lys54=
ENST00000675138.1:c.207A>G ENSP00000501597.1:p.Lys69=
ENST00000675168.1:c.114A>G ENSP00000501563.1:p.Lys38=
ENST00000675494.1:n.471A>G
ENST00000675542.1:n.127A>G
ENST00000675563.1:c.-448A>G ENSP00000502483.1:n.-448A>G
ENST00000675596.1:c.162A>G ENSP00000501735.1:p.Lys54=
ENST00000675626.1:n.145A>G
ENST00000675649.1:c.162A>G ENSP00000502385.1:p.Lys54=
ENST00000675721.1:c.*105A>G ENSP00000502026.1:n.*105A>G
ENST00000675803.1:c.123A>G ENSP00000502477.1:p.Lys41=
ENST00000675813.1:c.*66A>G ENSP00000502785.1:n.*66A>G
ENST00000675935.1:c.162A>G ENSP00000501731.1:p.Lys54=
ENST00000675962.1:c.114A>G ENSP00000502478.1:p.Lys38=
ENST00000676115.1:c.*83A>G ENSP00000502631.1:n.*83A>G
ENST00000676243.1:c.162A>G ENSP00000501717.1:p.Lys54=
ENST00000676312.1:c.123A>G ENSP00000502312.1:p.Lys41=
XM_011516708.1:c.207A>G XP_011515010.1:p.Lys69=
XM_011516709.1:c.57A>G XP_011515011.1:p.Lys19=
XM_011516709.3:c.57A>G XP_011515011.1:p.Lys19=
XM_011516710.1:c.57A>G XP_011515012.1:p.Lys19=
XM_011516710.3:c.57A>G XP_011515012.1:p.Lys19=
XM_011516711.1:c.57A>G XP_011515013.1:p.Lys19=
XM_011516712.1:c.207A>G XP_011515014.1:p.Lys69=
XM_024447004.1:c.123A>G XP_024302772.1:p.Lys41=