Canonical Allele Identifier: CA366409895

Gene: CEP43

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.788T>C	ENSP00000230248.6:p.Leu263Pro
ENST00000488525.2:c.844T>C	ENSP00000516042.1:p.Ser282Pro
ENST00000609590.2:n.1720T>C
ENST00000704900.1:c.425T>C	ENSP00000516059.1:p.Leu142Pro
ENST00000704901.1:c.*435T>C	ENSP00000516060.1:n.*435T>C
ENST00000704959.1:n.1113T>C
ENST00000704982.1:n.1558T>C
ENST00000704985.1:n.1954T>C
ENST00000704986.1:n.1954T>C
ENST00000705029.1:n.1679T>C
ENST00000705059.1:n.1503T>C
ENST00000705168.1:c.101T>C	ENSP00000516071.1:p.Leu34Pro
ENST00000705169.1:c.101T>C	ENSP00000516072.1:p.Leu34Pro
ENST00000705170.1:c.101T>C	ENSP00000516073.1:p.Leu34Pro
ENST00000705171.1:n.893T>C
ENST00000705173.1:c.*157T>C	ENSP00000516075.1:n.*157T>C
ENST00000705175.1:c.974T>C	ENSP00000516077.1:p.Leu325Pro
ENST00000705176.1:c.1034T>C	ENSP00000516078.1:p.Leu345Pro
ENST00000705177.1:c.*432T>C	ENSP00000516079.1:n.*432T>C
ENST00000705178.1:c.371T>C	ENSP00000516080.1:p.Leu124Pro
ENST00000705179.1:c.566T>C	ENSP00000516081.1:p.Leu189Pro
ENST00000705180.1:c.506T>C	ENSP00000516082.1:p.Leu169Pro
ENST00000705235.1:c.848T>C	ENSP00000516093.1:p.Leu283Pro
ENST00000705236.1:c.788T>C	ENSP00000516094.1:p.Leu263Pro
ENST00000705237.1:c.506T>C	ENSP00000516095.1:p.Leu169Pro
ENST00000705238.1:c.707T>C	ENSP00000516096.1:p.Leu236Pro
ENST00000705239.1:c.785T>C	ENSP00000516097.1:p.Leu262Pro
ENST00000705240.1:c.*457T>C	ENSP00000516098.1:n.*457T>C
ENST00000705241.1:c.784T>C	ENSP00000516099.1:p.Ser262Pro
ENST00000705242.1:c.785T>C	ENSP00000516100.1:p.Leu262Pro
ENST00000705249.1:c.788T>C	ENSP00000516101.1:p.Leu263Pro
ENST00000705250.1:c.566T>C	ENSP00000516102.1:p.Leu189Pro
ENST00000705251.1:c.*435T>C	ENSP00000516103.1:n.*435T>C
ENST00000705252.1:c.*258T>C	ENSP00000516104.1:n.*258T>C
ENST00000705253.1:c.*258T>C	ENSP00000516105.1:n.*258T>C
ENST00000705254.1:c.395T>C	ENSP00000516106.1:p.Leu132Pro
ENST00000705255.1:n.1414T>C
ENST00000705256.1:c.845T>C	ENSP00000516107.1:p.Leu282Pro
ENST00000366847.9:c.848T>C MANE Select	ENSP00000355812.3:p.Leu283Pro
ENST00000349556.4:c.788T>C	ENSP00000230248.6:p.Leu263Pro
ENST00000366847.8:c.848T>C	ENSP00000355812.3:p.Leu283Pro
ENST00000488525.1:n.34T>C
ENST00000496181.1:n.252T>C
ENST00000622353.4:c.707T>C	ENSP00000479115.1:p.Leu236Pro
NM_001278690.1:c.707T>C	NP_001265619.1:p.Leu236Pro
NM_007045.3:c.848T>C	NP_008976.1:p.Leu283Pro
NM_194429.2:c.788T>C	NP_919410.1:p.Leu263Pro
NM_007045.4:c.848T>C MANE Select	NP_008976.1:p.Leu283Pro
NM_194429.3:c.788T>C	NP_919410.1:p.Leu263Pro
NM_001278690.2:c.707T>C	NP_001265619.1:p.Leu236Pro