Canonical Allele Identifier: CA366409894

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438311T>A (hg19) ; chr6:g.167024823T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024823T>A , CM000668.2:g.167024823T>A	GRCh38
NC_000006.11:g.167438311T>A , CM000668.1:g.167438311T>A	GRCh37
NC_000006.10:g.167358301T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.788T>A	ENSP00000230248.6:p.Leu263His
ENST00000488525.2:c.844T>A	ENSP00000516042.1:p.Ser282Thr
ENST00000609590.2:n.1720T>A
ENST00000704900.1:c.425T>A	ENSP00000516059.1:p.Leu142His
ENST00000704901.1:c.*435T>A	ENSP00000516060.1:n.*435T>A
ENST00000704959.1:n.1113T>A
ENST00000704982.1:n.1558T>A
ENST00000704985.1:n.1954T>A
ENST00000704986.1:n.1954T>A
ENST00000705029.1:n.1679T>A
ENST00000705059.1:n.1503T>A
ENST00000705168.1:c.101T>A	ENSP00000516071.1:p.Leu34His
ENST00000705169.1:c.101T>A	ENSP00000516072.1:p.Leu34His
ENST00000705170.1:c.101T>A	ENSP00000516073.1:p.Leu34His
ENST00000705171.1:n.893T>A
ENST00000705173.1:c.*157T>A	ENSP00000516075.1:n.*157T>A
ENST00000705175.1:c.974T>A	ENSP00000516077.1:p.Leu325His
ENST00000705176.1:c.1034T>A	ENSP00000516078.1:p.Leu345His
ENST00000705177.1:c.*432T>A	ENSP00000516079.1:n.*432T>A
ENST00000705178.1:c.371T>A	ENSP00000516080.1:p.Leu124His
ENST00000705179.1:c.566T>A	ENSP00000516081.1:p.Leu189His
ENST00000705180.1:c.506T>A	ENSP00000516082.1:p.Leu169His
ENST00000705235.1:c.848T>A	ENSP00000516093.1:p.Leu283His
ENST00000705236.1:c.788T>A	ENSP00000516094.1:p.Leu263His
ENST00000705237.1:c.506T>A	ENSP00000516095.1:p.Leu169His
ENST00000705238.1:c.707T>A	ENSP00000516096.1:p.Leu236His
ENST00000705239.1:c.785T>A	ENSP00000516097.1:p.Leu262His
ENST00000705240.1:c.*457T>A	ENSP00000516098.1:n.*457T>A
ENST00000705241.1:c.784T>A	ENSP00000516099.1:p.Ser262Thr
ENST00000705242.1:c.785T>A	ENSP00000516100.1:p.Leu262His
ENST00000705249.1:c.788T>A	ENSP00000516101.1:p.Leu263His
ENST00000705250.1:c.566T>A	ENSP00000516102.1:p.Leu189His
ENST00000705251.1:c.*435T>A	ENSP00000516103.1:n.*435T>A
ENST00000705252.1:c.*258T>A	ENSP00000516104.1:n.*258T>A
ENST00000705253.1:c.*258T>A	ENSP00000516105.1:n.*258T>A
ENST00000705254.1:c.395T>A	ENSP00000516106.1:p.Leu132His
ENST00000705255.1:n.1414T>A
ENST00000705256.1:c.845T>A	ENSP00000516107.1:p.Leu282His
ENST00000366847.9:c.848T>A MANE Select	ENSP00000355812.3:p.Leu283His
ENST00000349556.4:c.788T>A	ENSP00000230248.6:p.Leu263His
ENST00000366847.8:c.848T>A	ENSP00000355812.3:p.Leu283His
ENST00000488525.1:n.34T>A
ENST00000496181.1:n.252T>A
ENST00000622353.4:c.707T>A	ENSP00000479115.1:p.Leu236His
NM_001278690.1:c.707T>A	NP_001265619.1:p.Leu236His
NM_007045.3:c.848T>A	NP_008976.1:p.Leu283His
NM_194429.2:c.788T>A	NP_919410.1:p.Leu263His
NM_007045.4:c.848T>A MANE Select	NP_008976.1:p.Leu283His
NM_194429.3:c.788T>A	NP_919410.1:p.Leu263His
NM_001278690.2:c.707T>A	NP_001265619.1:p.Leu236His