Canonical Allele Identifier: CA4485448
Community Standard Title: NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130400156G>A , CM000669.2:g.130400156G>A GRCh38
NC_000007.13:g.130039997G>A , CM000669.1:g.130039997G>A GRCh37
NC_000007.12:g.129827233G>A NCBI36
NG_032164.1:g.46055C>T
NG_032164.2:g.46055C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.856C>T MANE Select NP_061188.1:p.Arg286Ter
ENST00000223208.10:c.856C>T MANE Select ENSP00000223208.4:p.Arg286Ter
NM_001257158.1:c.757+551C>T NP_001244087.1:n.757+551C>T
NM_001257158.2:c.757+551C>T NP_001244087.1:n.757+551C>T
NM_001257159.1:c.709+551C>T NP_001244088.1:n.709+551C>T
NM_001257159.2:c.709+551C>T NP_001244088.1:n.709+551C>T
NM_018718.2:c.856C>T NP_061188.1:p.Arg286Ter
NR_046443.1:n.1024C>T
NR_046443.2:n.830C>T
ENST00000223208.9:c.856C>T ENSP00000223208.4:p.Arg286Ter
ENST00000343969.10:c.766+542C>T ENSP00000342738.6:n.766+542C>T
ENST00000343969.9:c.757+551C>T ENSP00000342738.5:n.757+551C>T
ENST00000480206.2:c.*369C>T ENSP00000502099.1:n.*369C>T
ENST00000484549.5:c.*402C>T ENSP00000419078.1:n.*402C>T
ENST00000484549.6:c.*1028C>T ENSP00000419078.2:n.*1028C>T
ENST00000485736.5:n.539C>T
ENST00000492389.6:c.777+551C>T ENSP00000419192.2:n.777+551C>T
ENST00000541543.5:c.709+551C>T ENSP00000445888.1:n.709+551C>T
ENST00000541543.6:c.847C>T ENSP00000445888.2:p.Arg283Ter
ENST00000603513.1:n.1054C>T
ENST00000674539.1:c.423-1117C>T ENSP00000502834.1:n.423-1117C>T
ENST00000674630.1:c.*402C>T ENSP00000502521.1:n.*402C>T
ENST00000675138.1:c.901C>T ENSP00000501597.1:p.Arg301Ter
ENST00000675168.1:c.808C>T ENSP00000501563.1:p.Arg270Ter
ENST00000675328.1:n.666C>T
ENST00000675542.1:n.821C>T
ENST00000675563.1:c.247C>T ENSP00000502483.1:p.Arg83Ter
ENST00000675596.1:c.757+551C>T ENSP00000501735.1:n.757+551C>T
ENST00000675649.1:c.673C>T ENSP00000502385.1:p.Arg225Ter
ENST00000675721.1:c.*799C>T ENSP00000502026.1:n.*799C>T
ENST00000675803.1:c.817C>T ENSP00000502477.1:p.Arg273Ter
ENST00000675813.1:c.*760C>T ENSP00000502785.1:n.*760C>T
ENST00000675935.1:c.847C>T ENSP00000501731.1:p.Arg283Ter
ENST00000675962.1:c.709+551C>T ENSP00000502478.1:n.709+551C>T
ENST00000676115.1:c.*777C>T ENSP00000502631.1:n.*777C>T
ENST00000676243.1:c.865C>T ENSP00000501717.1:p.Arg289Ter
ENST00000676312.1:c.817C>T ENSP00000502312.1:p.Arg273Ter
XM_011516708.1:c.901C>T XP_011515010.1:p.Arg301Ter
XM_011516709.1:c.751C>T XP_011515011.1:p.Arg251Ter
XM_011516709.3:c.751C>T XP_011515011.1:p.Arg251Ter
XM_011516710.1:c.751C>T XP_011515012.1:p.Arg251Ter
XM_011516710.3:c.751C>T XP_011515012.1:p.Arg251Ter
XM_011516711.1:c.751C>T XP_011515013.1:p.Arg251Ter
XM_011516712.1:c.802+551C>T XP_011515014.1:n.802+551C>T
XM_024447004.1:c.817C>T XP_024302772.1:p.Arg273Ter