Canonical Allele Identifier: CA4485390
Gene: CEP41 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130398951G>A , CM000669.2:g.130398951G>A GRCh38
NC_000007.13:g.130038792G>A , CM000669.1:g.130038792G>A GRCh37
NC_000007.12:g.129826028G>A NCBI36
NG_032164.1:g.47260C>T
NG_032164.2:g.47260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000223208.10:c.1062C>T MANE Select ENSP00000223208.4:p.Ala354=
ENST00000343969.10:c.855C>T ENSP00000342738.6:p.Ala285=
ENST00000480206.2:c.*1574C>T ENSP00000502099.1:n.*1574C>T
ENST00000484549.6:c.*1234C>T ENSP00000419078.2:n.*1234C>T
ENST00000492389.6:c.866C>T ENSP00000419192.2:n.866C>T
ENST00000541543.6:c.1053C>T ENSP00000445888.2:p.Ala351=
ENST00000674539.1:c.*70C>T ENSP00000502834.1:n.*70C>T
ENST00000674630.1:c.*608C>T ENSP00000502521.1:n.*608C>T
ENST00000675138.1:c.1107C>T ENSP00000501597.1:p.Ala369=
ENST00000675168.1:c.1014C>T ENSP00000501563.1:p.Ala338=
ENST00000675328.1:n.872C>T
ENST00000675542.1:n.1027C>T
ENST00000675563.1:c.453C>T ENSP00000502483.1:p.Ala151=
ENST00000675596.1:c.846C>T ENSP00000501735.1:p.Ala282=
ENST00000675649.1:c.879C>T ENSP00000502385.1:p.Ala293=
ENST00000675721.1:c.*1005C>T ENSP00000502026.1:n.*1005C>T
ENST00000675803.1:c.1023C>T ENSP00000502477.1:p.Ala341=
ENST00000675813.1:c.*966C>T ENSP00000502785.1:n.*966C>T
ENST00000675935.1:c.1053C>T ENSP00000501731.1:p.Ala351=
ENST00000675962.1:c.798C>T ENSP00000502478.1:p.Ala266=
ENST00000676115.1:c.*983C>T ENSP00000502631.1:n.*983C>T
ENST00000676243.1:c.1071C>T ENSP00000501717.1:p.Ala357=
ENST00000676312.1:c.1023C>T ENSP00000502312.1:p.Ala341=
ENST00000223208.9:c.1062C>T ENSP00000223208.4:p.Ala354=
ENST00000343969.9:c.846C>T ENSP00000342738.5:p.Ala282=
ENST00000484549.5:c.*608C>T ENSP00000419078.1:n.*608C>T
ENST00000485736.5:n.745C>T
ENST00000541543.5:c.798C>T ENSP00000445888.1:p.Ala266=
ENST00000603513.1:n.2259C>T
NM_001257158.1:c.846C>T NP_001244087.1:p.Ala282=
NM_001257159.1:c.798C>T NP_001244088.1:p.Ala266=
NM_018718.2:c.1062C>T NP_061188.1:p.Ala354=
NR_046443.1:n.1230C>T
XM_011516708.1:c.1107C>T XP_011515010.1:p.Ala369=
XM_011516709.1:c.957C>T XP_011515011.1:p.Ala319=
XM_011516710.1:c.957C>T XP_011515012.1:p.Ala319=
XM_011516711.1:c.957C>T XP_011515013.1:p.Ala319=
XM_011516712.1:c.891C>T XP_011515014.1:p.Ala297=
XM_011516709.3:c.957C>T XP_011515011.1:p.Ala319=
XM_011516710.3:c.957C>T XP_011515012.1:p.Ala319=
XM_024447004.1:c.1023C>T XP_024302772.1:p.Ala341=
NM_018718.3:c.1062C>T MANE Select NP_061188.1:p.Ala354=
NM_001257158.2:c.846C>T NP_001244087.1:p.Ala282=
NR_046443.2:n.1036C>T
NM_001257159.2:c.798C>T NP_001244088.1:p.Ala266=