Canonical Allele Identifier: CA453081493

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438369A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.846A>G	ENSP00000230248.6:p.Leu282=
ENST00000488525.2:c.*38A>G	ENSP00000516042.1:n.*38A>G
ENST00000609590.2:n.1778A>G
ENST00000704900.1:c.483A>G	ENSP00000516059.1:p.Leu161=
ENST00000704901.1:c.*493A>G	ENSP00000516060.1:n.*493A>G
ENST00000704959.1:n.1171A>G
ENST00000704982.1:n.1616A>G
ENST00000704985.1:n.2012A>G
ENST00000704986.1:n.2012A>G
ENST00000705029.1:n.1737A>G
ENST00000705059.1:n.1561A>G
ENST00000705168.1:c.159A>G	ENSP00000516071.1:p.Leu53=
ENST00000705169.1:c.159A>G	ENSP00000516072.1:p.Leu53=
ENST00000705170.1:c.159A>G	ENSP00000516073.1:p.Leu53=
ENST00000705171.1:n.951A>G
ENST00000705173.1:c.*215A>G	ENSP00000516075.1:n.*215A>G
ENST00000705175.1:c.1032A>G	ENSP00000516077.1:p.Leu344=
ENST00000705176.1:c.1092A>G	ENSP00000516078.1:p.Leu364=
ENST00000705177.1:c.*490A>G	ENSP00000516079.1:n.*490A>G
ENST00000705178.1:c.429A>G	ENSP00000516080.1:p.Leu143=
ENST00000705179.1:c.624A>G	ENSP00000516081.1:p.Leu208=
ENST00000705180.1:c.564A>G	ENSP00000516082.1:p.Leu188=
ENST00000705235.1:c.906A>G	ENSP00000516093.1:p.Leu302=
ENST00000705236.1:c.846A>G	ENSP00000516094.1:p.Leu282=
ENST00000705237.1:c.564A>G	ENSP00000516095.1:p.Leu188=
ENST00000705238.1:c.765A>G	ENSP00000516096.1:p.Leu255=
ENST00000705239.1:c.843A>G	ENSP00000516097.1:p.Leu281=
ENST00000705240.1:c.*515A>G	ENSP00000516098.1:n.*515A>G
ENST00000705241.1:c.*38A>G	ENSP00000516099.1:n.*38A>G
ENST00000705242.1:c.843A>G	ENSP00000516100.1:p.Leu281=
ENST00000705249.1:c.846A>G	ENSP00000516101.1:p.Leu282=
ENST00000705250.1:c.624A>G	ENSP00000516102.1:p.Leu208=
ENST00000705251.1:c.*493A>G	ENSP00000516103.1:n.*493A>G
ENST00000705252.1:c.*316A>G	ENSP00000516104.1:n.*316A>G
ENST00000705253.1:c.*316A>G	ENSP00000516105.1:n.*316A>G
ENST00000705254.1:c.453A>G	ENSP00000516106.1:p.Leu151=
ENST00000705255.1:n.1472A>G
ENST00000705256.1:c.903A>G	ENSP00000516107.1:p.Leu301=
ENST00000366847.9:c.906A>G MANE Select	ENSP00000355812.3:p.Leu302=
ENST00000349556.4:c.846A>G	ENSP00000230248.6:p.Leu282=
ENST00000366847.8:c.906A>G	ENSP00000355812.3:p.Leu302=
ENST00000488525.1:n.92A>G
ENST00000496181.1:n.310A>G
ENST00000622353.4:c.765A>G	ENSP00000479115.1:p.Leu255=
NM_001278690.1:c.765A>G	NP_001265619.1:p.Leu255=
NM_007045.3:c.906A>G	NP_008976.1:p.Leu302=
NM_194429.2:c.846A>G	NP_919410.1:p.Leu282=
NM_007045.4:c.906A>G MANE Select	NP_008976.1:p.Leu302=
NM_194429.3:c.846A>G	NP_919410.1:p.Leu282=
NM_001278690.2:c.765A>G	NP_001265619.1:p.Leu255=