Canonical Allele Identifier: CA366409915

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438322C>A (hg19) ; chr6:g.167024834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024834C>A , CM000668.2:g.167024834C>A	GRCh38
NC_000006.11:g.167438322C>A , CM000668.1:g.167438322C>A	GRCh37
NC_000006.10:g.167358312C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.799C>A	ENSP00000230248.6:p.Pro267Thr
ENST00000488525.2:c.855C>A	ENSP00000516042.1:p.His285Gln
ENST00000609590.2:n.1731C>A
ENST00000704900.1:c.436C>A	ENSP00000516059.1:p.Pro146Thr
ENST00000704901.1:c.*446C>A	ENSP00000516060.1:n.*446C>A
ENST00000704959.1:n.1124C>A
ENST00000704982.1:n.1569C>A
ENST00000704985.1:n.1965C>A
ENST00000704986.1:n.1965C>A
ENST00000705029.1:n.1690C>A
ENST00000705059.1:n.1514C>A
ENST00000705168.1:c.112C>A	ENSP00000516071.1:p.Pro38Thr
ENST00000705169.1:c.112C>A	ENSP00000516072.1:p.Pro38Thr
ENST00000705170.1:c.112C>A	ENSP00000516073.1:p.Pro38Thr
ENST00000705171.1:n.904C>A
ENST00000705173.1:c.*168C>A	ENSP00000516075.1:n.*168C>A
ENST00000705175.1:c.985C>A	ENSP00000516077.1:p.Pro329Thr
ENST00000705176.1:c.1045C>A	ENSP00000516078.1:p.Pro349Thr
ENST00000705177.1:c.*443C>A	ENSP00000516079.1:n.*443C>A
ENST00000705178.1:c.382C>A	ENSP00000516080.1:p.Pro128Thr
ENST00000705179.1:c.577C>A	ENSP00000516081.1:p.Pro193Thr
ENST00000705180.1:c.517C>A	ENSP00000516082.1:p.Pro173Thr
ENST00000705235.1:c.859C>A	ENSP00000516093.1:p.Pro287Thr
ENST00000705236.1:c.799C>A	ENSP00000516094.1:p.Pro267Thr
ENST00000705237.1:c.517C>A	ENSP00000516095.1:p.Pro173Thr
ENST00000705238.1:c.718C>A	ENSP00000516096.1:p.Pro240Thr
ENST00000705239.1:c.796C>A	ENSP00000516097.1:p.Pro266Thr
ENST00000705240.1:c.*468C>A	ENSP00000516098.1:n.*468C>A
ENST00000705241.1:c.795C>A	ENSP00000516099.1:p.His265Gln
ENST00000705242.1:c.796C>A	ENSP00000516100.1:p.Pro266Thr
ENST00000705249.1:c.799C>A	ENSP00000516101.1:p.Pro267Thr
ENST00000705250.1:c.577C>A	ENSP00000516102.1:p.Pro193Thr
ENST00000705251.1:c.*446C>A	ENSP00000516103.1:n.*446C>A
ENST00000705252.1:c.*269C>A	ENSP00000516104.1:n.*269C>A
ENST00000705253.1:c.*269C>A	ENSP00000516105.1:n.*269C>A
ENST00000705254.1:c.406C>A	ENSP00000516106.1:p.Pro136Thr
ENST00000705255.1:n.1425C>A
ENST00000705256.1:c.856C>A	ENSP00000516107.1:p.Pro286Thr
ENST00000366847.9:c.859C>A MANE Select	ENSP00000355812.3:p.Pro287Thr
ENST00000349556.4:c.799C>A	ENSP00000230248.6:p.Pro267Thr
ENST00000366847.8:c.859C>A	ENSP00000355812.3:p.Pro287Thr
ENST00000488525.1:n.45C>A
ENST00000496181.1:n.263C>A
ENST00000622353.4:c.718C>A	ENSP00000479115.1:p.Pro240Thr
NM_001278690.1:c.718C>A	NP_001265619.1:p.Pro240Thr
NM_007045.3:c.859C>A	NP_008976.1:p.Pro287Thr
NM_194429.2:c.799C>A	NP_919410.1:p.Pro267Thr
NM_007045.4:c.859C>A MANE Select	NP_008976.1:p.Pro287Thr
NM_194429.3:c.799C>A	NP_919410.1:p.Pro267Thr
NM_001278690.2:c.718C>A	NP_001265619.1:p.Pro240Thr