Canonical Allele Identifier: CA366409912

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438320C>A (hg19) ; chr6:g.167024832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024832C>A , CM000668.2:g.167024832C>A	GRCh38
NC_000006.11:g.167438320C>A , CM000668.1:g.167438320C>A	GRCh37
NC_000006.10:g.167358310C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.797C>A	ENSP00000230248.6:p.Ala266Glu
ENST00000488525.2:c.853C>A	ENSP00000516042.1:p.His285Asn
ENST00000609590.2:n.1729C>A
ENST00000704900.1:c.434C>A	ENSP00000516059.1:p.Ala145Glu
ENST00000704901.1:c.*444C>A	ENSP00000516060.1:n.*444C>A
ENST00000704959.1:n.1122C>A
ENST00000704982.1:n.1567C>A
ENST00000704985.1:n.1963C>A
ENST00000704986.1:n.1963C>A
ENST00000705029.1:n.1688C>A
ENST00000705059.1:n.1512C>A
ENST00000705168.1:c.110C>A	ENSP00000516071.1:p.Ala37Glu
ENST00000705169.1:c.110C>A	ENSP00000516072.1:p.Ala37Glu
ENST00000705170.1:c.110C>A	ENSP00000516073.1:p.Ala37Glu
ENST00000705171.1:n.902C>A
ENST00000705173.1:c.*166C>A	ENSP00000516075.1:n.*166C>A
ENST00000705175.1:c.983C>A	ENSP00000516077.1:p.Ala328Glu
ENST00000705176.1:c.1043C>A	ENSP00000516078.1:p.Ala348Glu
ENST00000705177.1:c.*441C>A	ENSP00000516079.1:n.*441C>A
ENST00000705178.1:c.380C>A	ENSP00000516080.1:p.Ala127Glu
ENST00000705179.1:c.575C>A	ENSP00000516081.1:p.Ala192Glu
ENST00000705180.1:c.515C>A	ENSP00000516082.1:p.Ala172Glu
ENST00000705235.1:c.857C>A	ENSP00000516093.1:p.Ala286Glu
ENST00000705236.1:c.797C>A	ENSP00000516094.1:p.Ala266Glu
ENST00000705237.1:c.515C>A	ENSP00000516095.1:p.Ala172Glu
ENST00000705238.1:c.716C>A	ENSP00000516096.1:p.Ala239Glu
ENST00000705239.1:c.794C>A	ENSP00000516097.1:p.Ala265Glu
ENST00000705240.1:c.*466C>A	ENSP00000516098.1:n.*466C>A
ENST00000705241.1:c.793C>A	ENSP00000516099.1:p.His265Asn
ENST00000705242.1:c.794C>A	ENSP00000516100.1:p.Ala265Glu
ENST00000705249.1:c.797C>A	ENSP00000516101.1:p.Ala266Glu
ENST00000705250.1:c.575C>A	ENSP00000516102.1:p.Ala192Glu
ENST00000705251.1:c.*444C>A	ENSP00000516103.1:n.*444C>A
ENST00000705252.1:c.*267C>A	ENSP00000516104.1:n.*267C>A
ENST00000705253.1:c.*267C>A	ENSP00000516105.1:n.*267C>A
ENST00000705254.1:c.404C>A	ENSP00000516106.1:p.Ala135Glu
ENST00000705255.1:n.1423C>A
ENST00000705256.1:c.854C>A	ENSP00000516107.1:p.Ala285Glu
ENST00000366847.9:c.857C>A MANE Select	ENSP00000355812.3:p.Ala286Glu
ENST00000349556.4:c.797C>A	ENSP00000230248.6:p.Ala266Glu
ENST00000366847.8:c.857C>A	ENSP00000355812.3:p.Ala286Glu
ENST00000488525.1:n.43C>A
ENST00000496181.1:n.261C>A
ENST00000622353.4:c.716C>A	ENSP00000479115.1:p.Ala239Glu
NM_001278690.1:c.716C>A	NP_001265619.1:p.Ala239Glu
NM_007045.3:c.857C>A	NP_008976.1:p.Ala286Glu
NM_194429.2:c.797C>A	NP_919410.1:p.Ala266Glu
NM_007045.4:c.857C>A MANE Select	NP_008976.1:p.Ala286Glu
NM_194429.3:c.797C>A	NP_919410.1:p.Ala266Glu
NM_001278690.2:c.716C>A	NP_001265619.1:p.Ala239Glu