Canonical Allele Identifier: CA366409868

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438298A>T (hg19) ; chr6:g.167024810A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024810A>T , CM000668.2:g.167024810A>T	GRCh38
NC_000006.11:g.167438298A>T , CM000668.1:g.167438298A>T	GRCh37
NC_000006.10:g.167358288A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.775A>T	ENSP00000230248.6:p.Ser259Cys
ENST00000488525.2:c.831A>T	ENSP00000516042.1:p.Glu277Asp
ENST00000609590.2:n.1707A>T
ENST00000704900.1:c.412A>T	ENSP00000516059.1:p.Ser138Cys
ENST00000704901.1:c.*422A>T	ENSP00000516060.1:n.*422A>T
ENST00000704959.1:n.1100A>T
ENST00000704982.1:n.1545A>T
ENST00000704985.1:n.1941A>T
ENST00000704986.1:n.1941A>T
ENST00000705029.1:n.1666A>T
ENST00000705059.1:n.1490A>T
ENST00000705168.1:c.88A>T	ENSP00000516071.1:p.Ser30Cys
ENST00000705169.1:c.88A>T	ENSP00000516072.1:p.Ser30Cys
ENST00000705170.1:c.88A>T	ENSP00000516073.1:p.Ser30Cys
ENST00000705171.1:n.880A>T
ENST00000705173.1:c.*144A>T	ENSP00000516075.1:n.*144A>T
ENST00000705175.1:c.961A>T	ENSP00000516077.1:p.Ser321Cys
ENST00000705176.1:c.1021A>T	ENSP00000516078.1:p.Ser341Cys
ENST00000705177.1:c.*419A>T	ENSP00000516079.1:n.*419A>T
ENST00000705178.1:c.358A>T	ENSP00000516080.1:p.Ser120Cys
ENST00000705179.1:c.553A>T	ENSP00000516081.1:p.Ser185Cys
ENST00000705180.1:c.493A>T	ENSP00000516082.1:p.Ser165Cys
ENST00000705235.1:c.835A>T	ENSP00000516093.1:p.Ser279Cys
ENST00000705236.1:c.775A>T	ENSP00000516094.1:p.Ser259Cys
ENST00000705237.1:c.493A>T	ENSP00000516095.1:p.Ser165Cys
ENST00000705238.1:c.694A>T	ENSP00000516096.1:p.Ser232Cys
ENST00000705239.1:c.772A>T	ENSP00000516097.1:p.Ser258Cys
ENST00000705240.1:c.*444A>T	ENSP00000516098.1:n.*444A>T
ENST00000705241.1:c.771A>T	ENSP00000516099.1:p.Glu257Asp
ENST00000705242.1:c.772A>T	ENSP00000516100.1:p.Ser258Cys
ENST00000705249.1:c.775A>T	ENSP00000516101.1:p.Ser259Cys
ENST00000705250.1:c.553A>T	ENSP00000516102.1:p.Ser185Cys
ENST00000705251.1:c.*422A>T	ENSP00000516103.1:n.*422A>T
ENST00000705252.1:c.*245A>T	ENSP00000516104.1:n.*245A>T
ENST00000705253.1:c.*245A>T	ENSP00000516105.1:n.*245A>T
ENST00000705254.1:c.382A>T	ENSP00000516106.1:p.Ser128Cys
ENST00000705255.1:n.1401A>T
ENST00000705256.1:c.832A>T	ENSP00000516107.1:p.Ser278Cys
ENST00000366847.9:c.835A>T MANE Select	ENSP00000355812.3:p.Ser279Cys
ENST00000349556.4:c.775A>T	ENSP00000230248.6:p.Ser259Cys
ENST00000366847.8:c.835A>T	ENSP00000355812.3:p.Ser279Cys
ENST00000488525.1:n.21A>T
ENST00000496181.1:n.239A>T
ENST00000622353.4:c.694A>T	ENSP00000479115.1:p.Ser232Cys
NM_001278690.1:c.694A>T	NP_001265619.1:p.Ser232Cys
NM_007045.3:c.835A>T	NP_008976.1:p.Ser279Cys
NM_194429.2:c.775A>T	NP_919410.1:p.Ser259Cys
NM_007045.4:c.835A>T MANE Select	NP_008976.1:p.Ser279Cys
NM_194429.3:c.775A>T	NP_919410.1:p.Ser259Cys
NM_001278690.2:c.694A>T	NP_001265619.1:p.Ser232Cys