Canonical Allele Identifier: CA1680192017
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024873C= , CM000668.2:g.167024873C= GRCh38
NC_000006.11:g.167438361C= , CM000668.1:g.167438361C= GRCh37
NC_000006.10:g.167358351C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.838C= ENSP00000230248.6:p.Pro280=
ENST00000488525.2:c.*30C= ENSP00000516042.1:n.*30C=
ENST00000609590.2:n.1770C=
ENST00000704900.1:c.475C= ENSP00000516059.1:p.Pro159=
ENST00000704901.1:c.*485C= ENSP00000516060.1:n.*485C=
ENST00000704959.1:n.1163C=
ENST00000704982.1:n.1608C=
ENST00000704985.1:n.2004C=
ENST00000704986.1:n.2004C=
ENST00000705029.1:n.1729C=
ENST00000705059.1:n.1553C=
ENST00000705168.1:c.151C= ENSP00000516071.1:p.Pro51=
ENST00000705169.1:c.151C= ENSP00000516072.1:p.Pro51=
ENST00000705170.1:c.151C= ENSP00000516073.1:p.Pro51=
ENST00000705171.1:n.943C=
ENST00000705173.1:c.*207C= ENSP00000516075.1:n.*207C=
ENST00000705175.1:c.1024C= ENSP00000516077.1:p.Pro342=
ENST00000705176.1:c.1084C= ENSP00000516078.1:p.Pro362=
ENST00000705177.1:c.*482C= ENSP00000516079.1:n.*482C=
ENST00000705178.1:c.421C= ENSP00000516080.1:p.Pro141=
ENST00000705179.1:c.616C= ENSP00000516081.1:p.Pro206=
ENST00000705180.1:c.556C= ENSP00000516082.1:p.Pro186=
ENST00000705235.1:c.898C= ENSP00000516093.1:p.Pro300=
ENST00000705236.1:c.838C= ENSP00000516094.1:p.Pro280=
ENST00000705237.1:c.556C= ENSP00000516095.1:p.Pro186=
ENST00000705238.1:c.757C= ENSP00000516096.1:p.Pro253=
ENST00000705239.1:c.835C= ENSP00000516097.1:p.Pro279=
ENST00000705240.1:c.*507C= ENSP00000516098.1:n.*507C=
ENST00000705241.1:c.*30C= ENSP00000516099.1:n.*30C=
ENST00000705242.1:c.835C= ENSP00000516100.1:p.Pro279=
ENST00000705249.1:c.838C= ENSP00000516101.1:p.Pro280=
ENST00000705250.1:c.616C= ENSP00000516102.1:p.Pro206=
ENST00000705251.1:c.*485C= ENSP00000516103.1:n.*485C=
ENST00000705252.1:c.*308C= ENSP00000516104.1:n.*308C=
ENST00000705253.1:c.*308C= ENSP00000516105.1:n.*308C=
ENST00000705254.1:c.445C= ENSP00000516106.1:p.Pro149=
ENST00000705255.1:n.1464C=
ENST00000705256.1:c.895C= ENSP00000516107.1:p.Pro299=
ENST00000366847.9:c.898C= MANE Select ENSP00000355812.3:p.Pro300=
ENST00000349556.4:c.838C= ENSP00000230248.6:p.Pro280=
ENST00000366847.8:c.898C= ENSP00000355812.3:p.Pro300=
ENST00000488525.1:n.84C=
ENST00000496181.1:n.302C=
ENST00000622353.4:c.757C= ENSP00000479115.1:p.Pro253=
NM_001278690.1:c.757C= NP_001265619.1:p.Pro253=
NM_007045.3:c.898C= NP_008976.1:p.Pro300=
NM_194429.2:c.838C= NP_919410.1:p.Pro280=
NM_007045.4:c.898C= MANE Select NP_008976.1:p.Pro300=
NM_194429.3:c.838C= NP_919410.1:p.Pro280=
NM_001278690.2:c.757C= NP_001265619.1:p.Pro253=