Canonical Allele Identifier: CA4485584
Gene: CEP41 HGNC NCBI

Linked Data

ClinVar Variation Id: 280165
dbSNP Id: rs781848162

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130404568G>A , CM000669.2:g.130404568G>A GRCh38
NC_000007.13:g.130044409G>A , CM000669.1:g.130044409G>A GRCh37
NC_000007.12:g.129831645G>A NCBI36
NG_032164.1:g.41643C>T
NG_032164.2:g.41643C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000223208.10:c.418C>T MANE Select ENSP00000223208.4:p.Gln140Ter
ENST00000343969.10:c.418C>T ENSP00000342738.6:p.Gln140Ter
ENST00000471201.6:c.631C>T ENSP00000417463.2:p.Gln211Ter
ENST00000472739.6:c.313C>T ENSP00000417593.2:p.Gln105Ter
ENST00000475282.6:c.313C>T ENSP00000418363.2:p.Gln105Ter
ENST00000477003.6:c.418C>T ENSP00000420670.2:p.Gln140Ter
ENST00000480206.2:c.418C>T ENSP00000502099.1:p.Gln140Ter
ENST00000484549.6:c.*590C>T ENSP00000419078.2:n.*590C>T
ENST00000492389.6:c.438C>T ENSP00000419192.2:n.438C>T
ENST00000541543.6:c.409C>T ENSP00000445888.2:p.Gln137Ter
ENST00000674539.1:c.418C>T ENSP00000502834.1:p.Gln140Ter
ENST00000674630.1:c.346+72C>T ENSP00000502521.1:n.346+72C>T
ENST00000675138.1:c.463C>T ENSP00000501597.1:p.Gln155Ter
ENST00000675168.1:c.370C>T ENSP00000501563.1:p.Gln124Ter
ENST00000675328.1:n.228C>T
ENST00000675494.1:n.727C>T
ENST00000675542.1:n.383C>T
ENST00000675563.1:c.-192C>T ENSP00000502483.1:n.-192C>T
ENST00000675596.1:c.418C>T ENSP00000501735.1:p.Gln140Ter
ENST00000675626.1:n.401C>T
ENST00000675649.1:c.418C>T ENSP00000502385.1:p.Gln140Ter
ENST00000675721.1:c.*361C>T ENSP00000502026.1:n.*361C>T
ENST00000675803.1:c.379C>T ENSP00000502477.1:p.Gln127Ter
ENST00000675813.1:c.*322C>T ENSP00000502785.1:n.*322C>T
ENST00000675935.1:c.418C>T ENSP00000501731.1:p.Gln140Ter
ENST00000675962.1:c.370C>T ENSP00000502478.1:p.Gln124Ter
ENST00000676115.1:c.*339C>T ENSP00000502631.1:n.*339C>T
ENST00000676243.1:c.418C>T ENSP00000501717.1:p.Gln140Ter
ENST00000676312.1:c.379C>T ENSP00000502312.1:p.Gln127Ter
ENST00000223208.9:c.418C>T ENSP00000223208.4:p.Gln140Ter
ENST00000343969.9:c.418C>T ENSP00000342738.5:p.Gln140Ter
ENST00000472739.5:c.313C>T ENSP00000417593.1:p.Gln105Ter
ENST00000475282.5:c.313C>T ENSP00000418363.1:p.Gln105Ter
ENST00000477003.5:c.409C>T ENSP00000420670.1:p.Gln137Ter
ENST00000484549.5:c.346+72C>T ENSP00000419078.1:n.346+72C>T
ENST00000492389.5:c.313C>T ENSP00000419192.1:p.Gln105Ter
ENST00000541543.5:c.370C>T ENSP00000445888.1:p.Gln124Ter
NM_001257158.1:c.418C>T NP_001244087.1:p.Gln140Ter
NM_001257159.1:c.370C>T NP_001244088.1:p.Gln124Ter
NM_018718.2:c.418C>T NP_061188.1:p.Gln140Ter
NR_046443.1:n.590+72C>T
XM_011516708.1:c.463C>T XP_011515010.1:p.Gln155Ter
XM_011516709.1:c.313C>T XP_011515011.1:p.Gln105Ter
XM_011516710.1:c.313C>T XP_011515012.1:p.Gln105Ter
XM_011516711.1:c.313C>T XP_011515013.1:p.Gln105Ter
XM_011516712.1:c.463C>T XP_011515014.1:p.Gln155Ter
XM_011516709.3:c.313C>T XP_011515011.1:p.Gln105Ter
XM_011516710.3:c.313C>T XP_011515012.1:p.Gln105Ter
XM_024447004.1:c.379C>T XP_024302772.1:p.Gln127Ter
NM_018718.3:c.418C>T MANE Select NP_061188.1:p.Gln140Ter
NM_001257158.2:c.418C>T NP_001244087.1:p.Gln140Ter
NR_046443.2:n.396+72C>T
NM_001257159.2:c.370C>T NP_001244088.1:p.Gln124Ter