Canonical Allele Identifier: CA366409918

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438323C>A (hg19) ; chr6:g.167024835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024835C>A , CM000668.2:g.167024835C>A	GRCh38
NC_000006.11:g.167438323C>A , CM000668.1:g.167438323C>A	GRCh37
NC_000006.10:g.167358313C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.800C>A	ENSP00000230248.6:p.Pro267His
ENST00000488525.2:c.856C>A	ENSP00000516042.1:p.Pro286Thr
ENST00000609590.2:n.1732C>A
ENST00000704900.1:c.437C>A	ENSP00000516059.1:p.Pro146His
ENST00000704901.1:c.*447C>A	ENSP00000516060.1:n.*447C>A
ENST00000704959.1:n.1125C>A
ENST00000704982.1:n.1570C>A
ENST00000704985.1:n.1966C>A
ENST00000704986.1:n.1966C>A
ENST00000705029.1:n.1691C>A
ENST00000705059.1:n.1515C>A
ENST00000705168.1:c.113C>A	ENSP00000516071.1:p.Pro38His
ENST00000705169.1:c.113C>A	ENSP00000516072.1:p.Pro38His
ENST00000705170.1:c.113C>A	ENSP00000516073.1:p.Pro38His
ENST00000705171.1:n.905C>A
ENST00000705173.1:c.*169C>A	ENSP00000516075.1:n.*169C>A
ENST00000705175.1:c.986C>A	ENSP00000516077.1:p.Pro329His
ENST00000705176.1:c.1046C>A	ENSP00000516078.1:p.Pro349His
ENST00000705177.1:c.*444C>A	ENSP00000516079.1:n.*444C>A
ENST00000705178.1:c.383C>A	ENSP00000516080.1:p.Pro128His
ENST00000705179.1:c.578C>A	ENSP00000516081.1:p.Pro193His
ENST00000705180.1:c.518C>A	ENSP00000516082.1:p.Pro173His
ENST00000705235.1:c.860C>A	ENSP00000516093.1:p.Pro287His
ENST00000705236.1:c.800C>A	ENSP00000516094.1:p.Pro267His
ENST00000705237.1:c.518C>A	ENSP00000516095.1:p.Pro173His
ENST00000705238.1:c.719C>A	ENSP00000516096.1:p.Pro240His
ENST00000705239.1:c.797C>A	ENSP00000516097.1:p.Pro266His
ENST00000705240.1:c.*469C>A	ENSP00000516098.1:n.*469C>A
ENST00000705241.1:c.796C>A	ENSP00000516099.1:p.Pro266Thr
ENST00000705242.1:c.797C>A	ENSP00000516100.1:p.Pro266His
ENST00000705249.1:c.800C>A	ENSP00000516101.1:p.Pro267His
ENST00000705250.1:c.578C>A	ENSP00000516102.1:p.Pro193His
ENST00000705251.1:c.*447C>A	ENSP00000516103.1:n.*447C>A
ENST00000705252.1:c.*270C>A	ENSP00000516104.1:n.*270C>A
ENST00000705253.1:c.*270C>A	ENSP00000516105.1:n.*270C>A
ENST00000705254.1:c.407C>A	ENSP00000516106.1:p.Pro136His
ENST00000705255.1:n.1426C>A
ENST00000705256.1:c.857C>A	ENSP00000516107.1:p.Pro286His
ENST00000366847.9:c.860C>A MANE Select	ENSP00000355812.3:p.Pro287His
ENST00000349556.4:c.800C>A	ENSP00000230248.6:p.Pro267His
ENST00000366847.8:c.860C>A	ENSP00000355812.3:p.Pro287His
ENST00000488525.1:n.46C>A
ENST00000496181.1:n.264C>A
ENST00000622353.4:c.719C>A	ENSP00000479115.1:p.Pro240His
NM_001278690.1:c.719C>A	NP_001265619.1:p.Pro240His
NM_007045.3:c.860C>A	NP_008976.1:p.Pro287His
NM_194429.2:c.800C>A	NP_919410.1:p.Pro267His
NM_007045.4:c.860C>A MANE Select	NP_008976.1:p.Pro287His
NM_194429.3:c.800C>A	NP_919410.1:p.Pro267His
NM_001278690.2:c.719C>A	NP_001265619.1:p.Pro240His