Canonical Allele Identifier: CA366410029

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024889-C-A
• MyVariant Identifiers: chr6:g.167438377C>A (hg19) ; chr6:g.167024889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024889C>A , CM000668.2:g.167024889C>A	GRCh38
NC_000006.11:g.167438377C>A , CM000668.1:g.167438377C>A	GRCh37
NC_000006.10:g.167358367C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.854C>A	ENSP00000230248.6:p.Ser285Tyr
ENST00000488525.2:c.*46C>A	ENSP00000516042.1:n.*46C>A
ENST00000609590.2:n.1786C>A
ENST00000704900.1:c.491C>A	ENSP00000516059.1:p.Ser164Tyr
ENST00000704901.1:c.*501C>A	ENSP00000516060.1:n.*501C>A
ENST00000704959.1:n.1179C>A
ENST00000704982.1:n.1624C>A
ENST00000704985.1:n.2020C>A
ENST00000704986.1:n.2020C>A
ENST00000705029.1:n.1745C>A
ENST00000705059.1:n.1569C>A
ENST00000705168.1:c.167C>A	ENSP00000516071.1:p.Ser56Tyr
ENST00000705169.1:c.167C>A	ENSP00000516072.1:p.Ser56Tyr
ENST00000705170.1:c.167C>A	ENSP00000516073.1:p.Ser56Tyr
ENST00000705171.1:n.959C>A
ENST00000705173.1:c.*223C>A	ENSP00000516075.1:n.*223C>A
ENST00000705175.1:c.1040C>A	ENSP00000516077.1:p.Ser347Tyr
ENST00000705176.1:c.1100C>A	ENSP00000516078.1:p.Ser367Tyr
ENST00000705177.1:c.*498C>A	ENSP00000516079.1:n.*498C>A
ENST00000705178.1:c.437C>A	ENSP00000516080.1:p.Ser146Tyr
ENST00000705179.1:c.632C>A	ENSP00000516081.1:p.Ser211Tyr
ENST00000705180.1:c.572C>A	ENSP00000516082.1:p.Ser191Tyr
ENST00000705235.1:c.914C>A	ENSP00000516093.1:p.Ser305Tyr
ENST00000705236.1:c.854C>A	ENSP00000516094.1:p.Ser285Tyr
ENST00000705237.1:c.572C>A	ENSP00000516095.1:p.Ser191Tyr
ENST00000705238.1:c.773C>A	ENSP00000516096.1:p.Ser258Tyr
ENST00000705239.1:c.851C>A	ENSP00000516097.1:p.Ser284Tyr
ENST00000705240.1:c.*523C>A	ENSP00000516098.1:n.*523C>A
ENST00000705241.1:c.*46C>A	ENSP00000516099.1:n.*46C>A
ENST00000705242.1:c.851C>A	ENSP00000516100.1:p.Ser284Tyr
ENST00000705249.1:c.854C>A	ENSP00000516101.1:p.Ser285Tyr
ENST00000705250.1:c.632C>A	ENSP00000516102.1:p.Ser211Tyr
ENST00000705251.1:c.*501C>A	ENSP00000516103.1:n.*501C>A
ENST00000705252.1:c.*324C>A	ENSP00000516104.1:n.*324C>A
ENST00000705253.1:c.*324C>A	ENSP00000516105.1:n.*324C>A
ENST00000705254.1:c.461C>A	ENSP00000516106.1:p.Ser154Tyr
ENST00000705255.1:n.1480C>A
ENST00000705256.1:c.911C>A	ENSP00000516107.1:p.Ser304Tyr
ENST00000366847.9:c.914C>A MANE Select	ENSP00000355812.3:p.Ser305Tyr
ENST00000349556.4:c.854C>A	ENSP00000230248.6:p.Ser285Tyr
ENST00000366847.8:c.914C>A	ENSP00000355812.3:p.Ser305Tyr
ENST00000488525.1:n.100C>A
ENST00000496181.1:n.318C>A
ENST00000622353.4:c.773C>A	ENSP00000479115.1:p.Ser258Tyr
NM_001278690.1:c.773C>A	NP_001265619.1:p.Ser258Tyr
NM_007045.3:c.914C>A	NP_008976.1:p.Ser305Tyr
NM_194429.2:c.854C>A	NP_919410.1:p.Ser285Tyr
NM_007045.4:c.914C>A MANE Select	NP_008976.1:p.Ser305Tyr
NM_194429.3:c.854C>A	NP_919410.1:p.Ser285Tyr
NM_001278690.2:c.773C>A	NP_001265619.1:p.Ser258Tyr