Canonical Allele Identifier: CA4485569
Community Standard Title: NM_018718.3(CEP41):c.423-2A>C
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130402801T>G , CM000669.2:g.130402801T>G GRCh38
NC_000007.13:g.130042642T>G , CM000669.1:g.130042642T>G GRCh37
NC_000007.12:g.129829878T>G NCBI36
NG_032164.1:g.43410A>C
NG_032164.2:g.43410A>C

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.423-2A>C MANE Select NP_061188.1:n.423-2A>C
ENST00000223208.10:c.423-2A>C MANE Select ENSP00000223208.4:n.423-2A>C
NM_001257158.1:c.423-2A>C NP_001244087.1:n.423-2A>C
NM_001257158.2:c.423-2A>C NP_001244087.1:n.423-2A>C
NM_001257159.1:c.375-2A>C NP_001244088.1:n.375-2A>C
NM_001257159.2:c.375-2A>C NP_001244088.1:n.375-2A>C
NM_018718.2:c.423-2A>C NP_061188.1:n.423-2A>C
NR_046443.1:n.591-2A>C
NR_046443.2:n.397-2A>C
ENST00000223208.9:c.423-2A>C ENSP00000223208.4:n.423-2A>C
ENST00000343969.10:c.423-2A>C ENSP00000342738.6:n.423-2A>C
ENST00000343969.9:c.423-2A>C ENSP00000342738.5:n.423-2A>C
ENST00000471201.6:c.636-2A>C ENSP00000417463.2:n.636-2A>C
ENST00000472739.5:c.318-2A>C ENSP00000417593.1:n.318-2A>C
ENST00000472739.6:c.318-2A>C ENSP00000417593.2:n.318-2A>C
ENST00000475282.5:c.318-2A>C ENSP00000418363.1:n.318-2A>C
ENST00000475282.6:c.318-2A>C ENSP00000418363.2:n.318-2A>C
ENST00000477003.5:c.414-2A>C ENSP00000420670.1:n.414-2A>C
ENST00000477003.6:c.*25-2A>C ENSP00000420670.2:n.*25-2A>C
ENST00000480206.2:c.423-2A>C ENSP00000502099.1:n.423-2A>C
ENST00000484549.5:c.347-2A>C ENSP00000419078.1:n.347-2A>C
ENST00000484549.6:c.*595-2A>C ENSP00000419078.2:n.*595-2A>C
ENST00000492389.5:c.318-2A>C ENSP00000419192.1:n.318-2A>C
ENST00000492389.6:c.443-2A>C ENSP00000419192.2:n.443-2A>C
ENST00000541543.5:c.375-2A>C ENSP00000445888.1:n.375-2A>C
ENST00000541543.6:c.414-2A>C ENSP00000445888.2:n.414-2A>C
ENST00000674539.1:c.422+1763A>C ENSP00000502834.1:n.422+1763A>C
ENST00000674630.1:c.347-2A>C ENSP00000502521.1:n.347-2A>C
ENST00000675138.1:c.468-2A>C ENSP00000501597.1:n.468-2A>C
ENST00000675168.1:c.375-2A>C ENSP00000501563.1:n.375-2A>C
ENST00000675328.1:n.233-2A>C
ENST00000675494.1:n.732-2A>C
ENST00000675542.1:n.388-2A>C
ENST00000675563.1:c.-187-2A>C ENSP00000502483.1:n.-187-2A>C
ENST00000675596.1:c.423-2A>C ENSP00000501735.1:n.423-2A>C
ENST00000675626.1:n.406-2A>C
ENST00000675649.1:c.423-2A>C ENSP00000502385.1:n.423-2A>C
ENST00000675721.1:c.*366-2A>C ENSP00000502026.1:n.*366-2A>C
ENST00000675803.1:c.384-2A>C ENSP00000502477.1:n.384-2A>C
ENST00000675813.1:c.*327-2A>C ENSP00000502785.1:n.*327-2A>C
ENST00000675935.1:c.423-11A>C ENSP00000501731.1:n.423-11A>C
ENST00000675962.1:c.375-2A>C ENSP00000502478.1:n.375-2A>C
ENST00000676115.1:c.*344-2A>C ENSP00000502631.1:n.*344-2A>C
ENST00000676243.1:c.423-2A>C ENSP00000501717.1:n.423-2A>C
ENST00000676312.1:c.384-2A>C ENSP00000502312.1:n.384-2A>C
XM_011516708.1:c.468-2A>C XP_011515010.1:n.468-2A>C
XM_011516709.1:c.318-2A>C XP_011515011.1:n.318-2A>C
XM_011516709.3:c.318-2A>C XP_011515011.1:n.318-2A>C
XM_011516710.1:c.318-2A>C XP_011515012.1:n.318-2A>C
XM_011516710.3:c.318-2A>C XP_011515012.1:n.318-2A>C
XM_011516711.1:c.318-2A>C XP_011515013.1:n.318-2A>C
XM_011516712.1:c.468-2A>C XP_011515014.1:n.468-2A>C
XM_024447004.1:c.384-2A>C XP_024302772.1:n.384-2A>C