Canonical Allele Identifier: CA366410028

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438376T>G (hg19) ; chr6:g.167024888T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024888T>G , CM000668.2:g.167024888T>G	GRCh38
NC_000006.11:g.167438376T>G , CM000668.1:g.167438376T>G	GRCh37
NC_000006.10:g.167358366T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.853T>G	ENSP00000230248.6:p.Ser285Ala
ENST00000488525.2:c.*45T>G	ENSP00000516042.1:n.*45T>G
ENST00000609590.2:n.1785T>G
ENST00000704900.1:c.490T>G	ENSP00000516059.1:p.Ser164Ala
ENST00000704901.1:c.*500T>G	ENSP00000516060.1:n.*500T>G
ENST00000704959.1:n.1178T>G
ENST00000704982.1:n.1623T>G
ENST00000704985.1:n.2019T>G
ENST00000704986.1:n.2019T>G
ENST00000705029.1:n.1744T>G
ENST00000705059.1:n.1568T>G
ENST00000705168.1:c.166T>G	ENSP00000516071.1:p.Ser56Ala
ENST00000705169.1:c.166T>G	ENSP00000516072.1:p.Ser56Ala
ENST00000705170.1:c.166T>G	ENSP00000516073.1:p.Ser56Ala
ENST00000705171.1:n.958T>G
ENST00000705173.1:c.*222T>G	ENSP00000516075.1:n.*222T>G
ENST00000705175.1:c.1039T>G	ENSP00000516077.1:p.Ser347Ala
ENST00000705176.1:c.1099T>G	ENSP00000516078.1:p.Ser367Ala
ENST00000705177.1:c.*497T>G	ENSP00000516079.1:n.*497T>G
ENST00000705178.1:c.436T>G	ENSP00000516080.1:p.Ser146Ala
ENST00000705179.1:c.631T>G	ENSP00000516081.1:p.Ser211Ala
ENST00000705180.1:c.571T>G	ENSP00000516082.1:p.Ser191Ala
ENST00000705235.1:c.913T>G	ENSP00000516093.1:p.Ser305Ala
ENST00000705236.1:c.853T>G	ENSP00000516094.1:p.Ser285Ala
ENST00000705237.1:c.571T>G	ENSP00000516095.1:p.Ser191Ala
ENST00000705238.1:c.772T>G	ENSP00000516096.1:p.Ser258Ala
ENST00000705239.1:c.850T>G	ENSP00000516097.1:p.Ser284Ala
ENST00000705240.1:c.*522T>G	ENSP00000516098.1:n.*522T>G
ENST00000705241.1:c.*45T>G	ENSP00000516099.1:n.*45T>G
ENST00000705242.1:c.850T>G	ENSP00000516100.1:p.Ser284Ala
ENST00000705249.1:c.853T>G	ENSP00000516101.1:p.Ser285Ala
ENST00000705250.1:c.631T>G	ENSP00000516102.1:p.Ser211Ala
ENST00000705251.1:c.*500T>G	ENSP00000516103.1:n.*500T>G
ENST00000705252.1:c.*323T>G	ENSP00000516104.1:n.*323T>G
ENST00000705253.1:c.*323T>G	ENSP00000516105.1:n.*323T>G
ENST00000705254.1:c.460T>G	ENSP00000516106.1:p.Ser154Ala
ENST00000705255.1:n.1479T>G
ENST00000705256.1:c.910T>G	ENSP00000516107.1:p.Ser304Ala
ENST00000366847.9:c.913T>G MANE Select	ENSP00000355812.3:p.Ser305Ala
ENST00000349556.4:c.853T>G	ENSP00000230248.6:p.Ser285Ala
ENST00000366847.8:c.913T>G	ENSP00000355812.3:p.Ser305Ala
ENST00000488525.1:n.99T>G
ENST00000496181.1:n.317T>G
ENST00000622353.4:c.772T>G	ENSP00000479115.1:p.Ser258Ala
NM_001278690.1:c.772T>G	NP_001265619.1:p.Ser258Ala
NM_007045.3:c.913T>G	NP_008976.1:p.Ser305Ala
NM_194429.2:c.853T>G	NP_919410.1:p.Ser285Ala
NM_007045.4:c.913T>G MANE Select	NP_008976.1:p.Ser305Ala
NM_194429.3:c.853T>G	NP_919410.1:p.Ser285Ala
NM_001278690.2:c.772T>G	NP_001265619.1:p.Ser258Ala