Canonical Allele Identifier: CA366410011

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438369A>T (hg19) ; chr6:g.167024881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024881A>T , CM000668.2:g.167024881A>T	GRCh38
NC_000006.11:g.167438369A>T , CM000668.1:g.167438369A>T	GRCh37
NC_000006.10:g.167358359A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.846A>T	ENSP00000230248.6:p.Leu282Phe
ENST00000488525.2:c.*38A>T	ENSP00000516042.1:n.*38A>T
ENST00000609590.2:n.1778A>T
ENST00000704900.1:c.483A>T	ENSP00000516059.1:p.Leu161Phe
ENST00000704901.1:c.*493A>T	ENSP00000516060.1:n.*493A>T
ENST00000704959.1:n.1171A>T
ENST00000704982.1:n.1616A>T
ENST00000704985.1:n.2012A>T
ENST00000704986.1:n.2012A>T
ENST00000705029.1:n.1737A>T
ENST00000705059.1:n.1561A>T
ENST00000705168.1:c.159A>T	ENSP00000516071.1:p.Leu53Phe
ENST00000705169.1:c.159A>T	ENSP00000516072.1:p.Leu53Phe
ENST00000705170.1:c.159A>T	ENSP00000516073.1:p.Leu53Phe
ENST00000705171.1:n.951A>T
ENST00000705173.1:c.*215A>T	ENSP00000516075.1:n.*215A>T
ENST00000705175.1:c.1032A>T	ENSP00000516077.1:p.Leu344Phe
ENST00000705176.1:c.1092A>T	ENSP00000516078.1:p.Leu364Phe
ENST00000705177.1:c.*490A>T	ENSP00000516079.1:n.*490A>T
ENST00000705178.1:c.429A>T	ENSP00000516080.1:p.Leu143Phe
ENST00000705179.1:c.624A>T	ENSP00000516081.1:p.Leu208Phe
ENST00000705180.1:c.564A>T	ENSP00000516082.1:p.Leu188Phe
ENST00000705235.1:c.906A>T	ENSP00000516093.1:p.Leu302Phe
ENST00000705236.1:c.846A>T	ENSP00000516094.1:p.Leu282Phe
ENST00000705237.1:c.564A>T	ENSP00000516095.1:p.Leu188Phe
ENST00000705238.1:c.765A>T	ENSP00000516096.1:p.Leu255Phe
ENST00000705239.1:c.843A>T	ENSP00000516097.1:p.Leu281Phe
ENST00000705240.1:c.*515A>T	ENSP00000516098.1:n.*515A>T
ENST00000705241.1:c.*38A>T	ENSP00000516099.1:n.*38A>T
ENST00000705242.1:c.843A>T	ENSP00000516100.1:p.Leu281Phe
ENST00000705249.1:c.846A>T	ENSP00000516101.1:p.Leu282Phe
ENST00000705250.1:c.624A>T	ENSP00000516102.1:p.Leu208Phe
ENST00000705251.1:c.*493A>T	ENSP00000516103.1:n.*493A>T
ENST00000705252.1:c.*316A>T	ENSP00000516104.1:n.*316A>T
ENST00000705253.1:c.*316A>T	ENSP00000516105.1:n.*316A>T
ENST00000705254.1:c.453A>T	ENSP00000516106.1:p.Leu151Phe
ENST00000705255.1:n.1472A>T
ENST00000705256.1:c.903A>T	ENSP00000516107.1:p.Leu301Phe
ENST00000366847.9:c.906A>T MANE Select	ENSP00000355812.3:p.Leu302Phe
ENST00000349556.4:c.846A>T	ENSP00000230248.6:p.Leu282Phe
ENST00000366847.8:c.906A>T	ENSP00000355812.3:p.Leu302Phe
ENST00000488525.1:n.92A>T
ENST00000496181.1:n.310A>T
ENST00000622353.4:c.765A>T	ENSP00000479115.1:p.Leu255Phe
NM_001278690.1:c.765A>T	NP_001265619.1:p.Leu255Phe
NM_007045.3:c.906A>T	NP_008976.1:p.Leu302Phe
NM_194429.2:c.846A>T	NP_919410.1:p.Leu282Phe
NM_007045.4:c.906A>T MANE Select	NP_008976.1:p.Leu302Phe
NM_194429.3:c.846A>T	NP_919410.1:p.Leu282Phe
NM_001278690.2:c.765A>T	NP_001265619.1:p.Leu255Phe