Canonical Allele Identifier: CA1680191891
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024799A= , CM000668.2:g.167024799A= GRCh38
NC_000006.11:g.167438287A= , CM000668.1:g.167438287A= GRCh37
NC_000006.10:g.167358277A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.764A= ENSP00000230248.6:p.Lys255=
ENST00000488525.2:c.820A= ENSP00000516042.1:p.Ser274=
ENST00000609590.2:n.1696A=
ENST00000704900.1:c.401A= ENSP00000516059.1:p.Lys134=
ENST00000704901.1:c.*411A= ENSP00000516060.1:n.*411A=
ENST00000704959.1:n.1089A=
ENST00000704982.1:n.1534A=
ENST00000704985.1:n.1930A=
ENST00000704986.1:n.1930A=
ENST00000705029.1:n.1655A=
ENST00000705059.1:n.1479A=
ENST00000705168.1:c.77A= ENSP00000516071.1:p.Lys26=
ENST00000705169.1:c.77A= ENSP00000516072.1:p.Lys26=
ENST00000705170.1:c.77A= ENSP00000516073.1:p.Lys26=
ENST00000705171.1:n.869A=
ENST00000705173.1:c.*133A= ENSP00000516075.1:n.*133A=
ENST00000705175.1:c.950A= ENSP00000516077.1:p.Lys317=
ENST00000705176.1:c.1010A= ENSP00000516078.1:p.Lys337=
ENST00000705177.1:c.*408A= ENSP00000516079.1:n.*408A=
ENST00000705178.1:c.347A= ENSP00000516080.1:p.Lys116=
ENST00000705179.1:c.542A= ENSP00000516081.1:p.Lys181=
ENST00000705180.1:c.482A= ENSP00000516082.1:p.Lys161=
ENST00000705235.1:c.824A= ENSP00000516093.1:p.Lys275=
ENST00000705236.1:c.764A= ENSP00000516094.1:p.Lys255=
ENST00000705237.1:c.482A= ENSP00000516095.1:p.Lys161=
ENST00000705238.1:c.683A= ENSP00000516096.1:p.Lys228=
ENST00000705239.1:c.761A= ENSP00000516097.1:p.Lys254=
ENST00000705240.1:c.*433A= ENSP00000516098.1:n.*433A=
ENST00000705241.1:c.760A= ENSP00000516099.1:p.Ser254=
ENST00000705242.1:c.761A= ENSP00000516100.1:p.Lys254=
ENST00000705249.1:c.764A= ENSP00000516101.1:p.Lys255=
ENST00000705250.1:c.542A= ENSP00000516102.1:p.Lys181=
ENST00000705251.1:c.*411A= ENSP00000516103.1:n.*411A=
ENST00000705252.1:c.*234A= ENSP00000516104.1:n.*234A=
ENST00000705253.1:c.*234A= ENSP00000516105.1:n.*234A=
ENST00000705254.1:c.371A= ENSP00000516106.1:p.Lys124=
ENST00000705255.1:n.1390A=
ENST00000705256.1:c.821A= ENSP00000516107.1:p.Lys274=
ENST00000366847.9:c.824A= MANE Select ENSP00000355812.3:p.Lys275=
ENST00000349556.4:c.764A= ENSP00000230248.6:p.Lys255=
ENST00000366847.8:c.824A= ENSP00000355812.3:p.Lys275=
ENST00000488525.1:n.10A=
ENST00000496181.1:n.228A=
ENST00000622353.4:c.683A= ENSP00000479115.1:p.Lys228=
NM_001278690.1:c.683A= NP_001265619.1:p.Lys228=
NM_007045.3:c.824A= NP_008976.1:p.Lys275=
NM_194429.2:c.764A= NP_919410.1:p.Lys255=
NM_007045.4:c.824A= MANE Select NP_008976.1:p.Lys275=
NM_194429.3:c.764A= NP_919410.1:p.Lys255=
NM_001278690.2:c.683A= NP_001265619.1:p.Lys228=