Canonical Allele Identifier: CA366409991

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024871-C-A
• MyVariant Identifiers: chr6:g.167438359C>A (hg19) ; chr6:g.167024871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024871C>A , CM000668.2:g.167024871C>A	GRCh38
NC_000006.11:g.167438359C>A , CM000668.1:g.167438359C>A	GRCh37
NC_000006.10:g.167358349C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.836C>A	ENSP00000230248.6:p.Ala279Asp
ENST00000488525.2:c.*28C>A	ENSP00000516042.1:n.*28C>A
ENST00000609590.2:n.1768C>A
ENST00000704900.1:c.473C>A	ENSP00000516059.1:p.Ala158Asp
ENST00000704901.1:c.*483C>A	ENSP00000516060.1:n.*483C>A
ENST00000704959.1:n.1161C>A
ENST00000704982.1:n.1606C>A
ENST00000704985.1:n.2002C>A
ENST00000704986.1:n.2002C>A
ENST00000705029.1:n.1727C>A
ENST00000705059.1:n.1551C>A
ENST00000705168.1:c.149C>A	ENSP00000516071.1:p.Ala50Asp
ENST00000705169.1:c.149C>A	ENSP00000516072.1:p.Ala50Asp
ENST00000705170.1:c.149C>A	ENSP00000516073.1:p.Ala50Asp
ENST00000705171.1:n.941C>A
ENST00000705173.1:c.*205C>A	ENSP00000516075.1:n.*205C>A
ENST00000705175.1:c.1022C>A	ENSP00000516077.1:p.Ala341Asp
ENST00000705176.1:c.1082C>A	ENSP00000516078.1:p.Ala361Asp
ENST00000705177.1:c.*480C>A	ENSP00000516079.1:n.*480C>A
ENST00000705178.1:c.419C>A	ENSP00000516080.1:p.Ala140Asp
ENST00000705179.1:c.614C>A	ENSP00000516081.1:p.Ala205Asp
ENST00000705180.1:c.554C>A	ENSP00000516082.1:p.Ala185Asp
ENST00000705235.1:c.896C>A	ENSP00000516093.1:p.Ala299Asp
ENST00000705236.1:c.836C>A	ENSP00000516094.1:p.Ala279Asp
ENST00000705237.1:c.554C>A	ENSP00000516095.1:p.Ala185Asp
ENST00000705238.1:c.755C>A	ENSP00000516096.1:p.Ala252Asp
ENST00000705239.1:c.833C>A	ENSP00000516097.1:p.Ala278Asp
ENST00000705240.1:c.*505C>A	ENSP00000516098.1:n.*505C>A
ENST00000705241.1:c.*28C>A	ENSP00000516099.1:n.*28C>A
ENST00000705242.1:c.833C>A	ENSP00000516100.1:p.Ala278Asp
ENST00000705249.1:c.836C>A	ENSP00000516101.1:p.Ala279Asp
ENST00000705250.1:c.614C>A	ENSP00000516102.1:p.Ala205Asp
ENST00000705251.1:c.*483C>A	ENSP00000516103.1:n.*483C>A
ENST00000705252.1:c.*306C>A	ENSP00000516104.1:n.*306C>A
ENST00000705253.1:c.*306C>A	ENSP00000516105.1:n.*306C>A
ENST00000705254.1:c.443C>A	ENSP00000516106.1:p.Ala148Asp
ENST00000705255.1:n.1462C>A
ENST00000705256.1:c.893C>A	ENSP00000516107.1:p.Ala298Asp
ENST00000366847.9:c.896C>A MANE Select	ENSP00000355812.3:p.Ala299Asp
ENST00000349556.4:c.836C>A	ENSP00000230248.6:p.Ala279Asp
ENST00000366847.8:c.896C>A	ENSP00000355812.3:p.Ala299Asp
ENST00000488525.1:n.82C>A
ENST00000496181.1:n.300C>A
ENST00000622353.4:c.755C>A	ENSP00000479115.1:p.Ala252Asp
NM_001278690.1:c.755C>A	NP_001265619.1:p.Ala252Asp
NM_007045.3:c.896C>A	NP_008976.1:p.Ala299Asp
NM_194429.2:c.836C>A	NP_919410.1:p.Ala279Asp
NM_007045.4:c.896C>A MANE Select	NP_008976.1:p.Ala299Asp
NM_194429.3:c.836C>A	NP_919410.1:p.Ala279Asp
NM_001278690.2:c.755C>A	NP_001265619.1:p.Ala252Asp