Canonical Allele Identifier: CA366409860

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438293C>A (hg19) ; chr6:g.167024805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024805C>A , CM000668.2:g.167024805C>A	GRCh38
NC_000006.11:g.167438293C>A , CM000668.1:g.167438293C>A	GRCh37
NC_000006.10:g.167358283C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.770C>A	ENSP00000230248.6:p.Ala257Glu
ENST00000488525.2:c.826C>A	ENSP00000516042.1:p.Gln276Lys
ENST00000609590.2:n.1702C>A
ENST00000704900.1:c.407C>A	ENSP00000516059.1:p.Ala136Glu
ENST00000704901.1:c.*417C>A	ENSP00000516060.1:n.*417C>A
ENST00000704959.1:n.1095C>A
ENST00000704982.1:n.1540C>A
ENST00000704985.1:n.1936C>A
ENST00000704986.1:n.1936C>A
ENST00000705029.1:n.1661C>A
ENST00000705059.1:n.1485C>A
ENST00000705168.1:c.83C>A	ENSP00000516071.1:p.Ala28Glu
ENST00000705169.1:c.83C>A	ENSP00000516072.1:p.Ala28Glu
ENST00000705170.1:c.83C>A	ENSP00000516073.1:p.Ala28Glu
ENST00000705171.1:n.875C>A
ENST00000705173.1:c.*139C>A	ENSP00000516075.1:n.*139C>A
ENST00000705175.1:c.956C>A	ENSP00000516077.1:p.Ala319Glu
ENST00000705176.1:c.1016C>A	ENSP00000516078.1:p.Ala339Glu
ENST00000705177.1:c.*414C>A	ENSP00000516079.1:n.*414C>A
ENST00000705178.1:c.353C>A	ENSP00000516080.1:p.Ala118Glu
ENST00000705179.1:c.548C>A	ENSP00000516081.1:p.Ala183Glu
ENST00000705180.1:c.488C>A	ENSP00000516082.1:p.Ala163Glu
ENST00000705235.1:c.830C>A	ENSP00000516093.1:p.Ala277Glu
ENST00000705236.1:c.770C>A	ENSP00000516094.1:p.Ala257Glu
ENST00000705237.1:c.488C>A	ENSP00000516095.1:p.Ala163Glu
ENST00000705238.1:c.689C>A	ENSP00000516096.1:p.Ala230Glu
ENST00000705239.1:c.767C>A	ENSP00000516097.1:p.Ala256Glu
ENST00000705240.1:c.*439C>A	ENSP00000516098.1:n.*439C>A
ENST00000705241.1:c.766C>A	ENSP00000516099.1:p.Gln256Lys
ENST00000705242.1:c.767C>A	ENSP00000516100.1:p.Ala256Glu
ENST00000705249.1:c.770C>A	ENSP00000516101.1:p.Ala257Glu
ENST00000705250.1:c.548C>A	ENSP00000516102.1:p.Ala183Glu
ENST00000705251.1:c.*417C>A	ENSP00000516103.1:n.*417C>A
ENST00000705252.1:c.*240C>A	ENSP00000516104.1:n.*240C>A
ENST00000705253.1:c.*240C>A	ENSP00000516105.1:n.*240C>A
ENST00000705254.1:c.377C>A	ENSP00000516106.1:p.Ala126Glu
ENST00000705255.1:n.1396C>A
ENST00000705256.1:c.827C>A	ENSP00000516107.1:p.Ala276Glu
ENST00000366847.9:c.830C>A MANE Select	ENSP00000355812.3:p.Ala277Glu
ENST00000349556.4:c.770C>A	ENSP00000230248.6:p.Ala257Glu
ENST00000366847.8:c.830C>A	ENSP00000355812.3:p.Ala277Glu
ENST00000488525.1:n.16C>A
ENST00000496181.1:n.234C>A
ENST00000622353.4:c.689C>A	ENSP00000479115.1:p.Ala230Glu
NM_001278690.1:c.689C>A	NP_001265619.1:p.Ala230Glu
NM_007045.3:c.830C>A	NP_008976.1:p.Ala277Glu
NM_194429.2:c.770C>A	NP_919410.1:p.Ala257Glu
NM_007045.4:c.830C>A MANE Select	NP_008976.1:p.Ala277Glu
NM_194429.3:c.770C>A	NP_919410.1:p.Ala257Glu
NM_001278690.2:c.689C>A	NP_001265619.1:p.Ala230Glu