Canonical Allele Identifier: CA4485477
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130400695C>A , CM000669.2:g.130400695C>A GRCh38
NC_000007.13:g.130040536C>A , CM000669.1:g.130040536C>A GRCh37
NC_000007.12:g.129827772C>A NCBI36
NG_032164.1:g.45516G>T
NG_032164.2:g.45516G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.757+12G>T MANE Select NP_061188.1:n.757+12G>T
ENST00000223208.10:c.757+12G>T MANE Select ENSP00000223208.4:n.757+12G>T
NM_001257158.1:c.757+12G>T NP_001244087.1:n.757+12G>T
NM_001257158.2:c.757+12G>T NP_001244087.1:n.757+12G>T
NM_001257159.1:c.709+12G>T NP_001244088.1:n.709+12G>T
NM_001257159.2:c.709+12G>T NP_001244088.1:n.709+12G>T
NM_018718.2:c.757+12G>T NP_061188.1:n.757+12G>T
NR_046443.1:n.925+12G>T
NR_046443.2:n.731+12G>T
ENST00000223208.9:c.757+12G>T ENSP00000223208.4:n.757+12G>T
ENST00000343969.10:c.766+3G>T ENSP00000342738.6:n.766+3G>T
ENST00000343969.9:c.757+12G>T ENSP00000342738.5:n.757+12G>T
ENST00000480206.1:n.234G>T
ENST00000480206.2:c.769G>T ENSP00000502099.1:p.Asp257Tyr
ENST00000484549.5:c.*303+12G>T ENSP00000419078.1:n.*303+12G>T
ENST00000484549.6:c.*929+12G>T ENSP00000419078.2:n.*929+12G>T
ENST00000485736.5:n.440+12G>T
ENST00000492389.6:c.777+12G>T ENSP00000419192.2:n.777+12G>T
ENST00000541543.5:c.709+12G>T ENSP00000445888.1:n.709+12G>T
ENST00000541543.6:c.748+12G>T ENSP00000445888.2:n.748+12G>T
ENST00000603513.1:n.515G>T
ENST00000674539.1:c.423-1656G>T ENSP00000502834.1:n.423-1656G>T
ENST00000674630.1:c.*303+12G>T ENSP00000502521.1:n.*303+12G>T
ENST00000675138.1:c.802+12G>T ENSP00000501597.1:n.802+12G>T
ENST00000675168.1:c.709+12G>T ENSP00000501563.1:n.709+12G>T
ENST00000675328.1:n.567+12G>T
ENST00000675542.1:n.722+12G>T
ENST00000675563.1:c.148+12G>T ENSP00000502483.1:n.148+12G>T
ENST00000675596.1:c.757+12G>T ENSP00000501735.1:n.757+12G>T
ENST00000675649.1:c.575-441G>T ENSP00000502385.1:n.575-441G>T
ENST00000675721.1:c.*700+12G>T ENSP00000502026.1:n.*700+12G>T
ENST00000675803.1:c.718+12G>T ENSP00000502477.1:n.718+12G>T
ENST00000675813.1:c.*661+12G>T ENSP00000502785.1:n.*661+12G>T
ENST00000675935.1:c.748+12G>T ENSP00000501731.1:n.748+12G>T
ENST00000675962.1:c.709+12G>T ENSP00000502478.1:n.709+12G>T
ENST00000676115.1:c.*678+12G>T ENSP00000502631.1:n.*678+12G>T
ENST00000676243.1:c.766+3G>T ENSP00000501717.1:n.766+3G>T
ENST00000676312.1:c.718+12G>T ENSP00000502312.1:n.718+12G>T
XM_011516708.1:c.802+12G>T XP_011515010.1:n.802+12G>T
XM_011516709.1:c.652+12G>T XP_011515011.1:n.652+12G>T
XM_011516709.3:c.652+12G>T XP_011515011.1:n.652+12G>T
XM_011516710.1:c.652+12G>T XP_011515012.1:n.652+12G>T
XM_011516710.3:c.652+12G>T XP_011515012.1:n.652+12G>T
XM_011516711.1:c.652+12G>T XP_011515013.1:n.652+12G>T
XM_011516712.1:c.802+12G>T XP_011515014.1:n.802+12G>T
XM_024447004.1:c.718+12G>T XP_024302772.1:n.718+12G>T