Canonical Allele Identifier: CA366409808

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438271A>T (hg19) ; chr6:g.167024783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024783A>T , CM000668.2:g.167024783A>T	GRCh38
NC_000006.11:g.167438271A>T , CM000668.1:g.167438271A>T	GRCh37
NC_000006.10:g.167358261A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.748A>T	ENSP00000230248.6:p.Arg250Trp
ENST00000488525.2:c.804A>T	ENSP00000516042.1:p.Gly268=
ENST00000609590.2:n.1682-2A>T
ENST00000704900.1:c.385A>T	ENSP00000516059.1:p.Arg129Trp
ENST00000704901.1:c.*395A>T	ENSP00000516060.1:n.*395A>T
ENST00000704959.1:n.1073A>T
ENST00000704982.1:n.1518A>T
ENST00000704985.1:n.1914A>T
ENST00000704986.1:n.1914A>T
ENST00000705029.1:n.1639A>T
ENST00000705059.1:n.1463A>T
ENST00000705168.1:c.61A>T	ENSP00000516071.1:p.Arg21Trp
ENST00000705169.1:c.61A>T	ENSP00000516072.1:p.Arg21Trp
ENST00000705170.1:c.61A>T	ENSP00000516073.1:p.Arg21Trp
ENST00000705171.1:n.853A>T
ENST00000705173.1:c.*117A>T	ENSP00000516075.1:n.*117A>T
ENST00000705175.1:c.934A>T	ENSP00000516077.1:p.Arg312Trp
ENST00000705176.1:c.994A>T	ENSP00000516078.1:p.Arg332Trp
ENST00000705177.1:c.*392A>T	ENSP00000516079.1:n.*392A>T
ENST00000705178.1:c.331A>T	ENSP00000516080.1:p.Arg111Trp
ENST00000705179.1:c.526A>T	ENSP00000516081.1:p.Arg176Trp
ENST00000705180.1:c.466A>T	ENSP00000516082.1:p.Arg156Trp
ENST00000705235.1:c.808A>T	ENSP00000516093.1:p.Arg270Trp
ENST00000705236.1:c.748A>T	ENSP00000516094.1:p.Arg250Trp
ENST00000705237.1:c.466A>T	ENSP00000516095.1:p.Arg156Trp
ENST00000705238.1:c.667A>T	ENSP00000516096.1:p.Arg223Trp
ENST00000705239.1:c.747-2A>T	ENSP00000516097.1:n.747-2A>T
ENST00000705240.1:c.*417A>T	ENSP00000516098.1:n.*417A>T
ENST00000705241.1:c.744A>T	ENSP00000516099.1:p.Gly248=
ENST00000705242.1:c.745A>T	ENSP00000516100.1:p.Arg249Trp
ENST00000705249.1:c.748A>T	ENSP00000516101.1:p.Arg250Trp
ENST00000705250.1:c.526A>T	ENSP00000516102.1:p.Arg176Trp
ENST00000705251.1:c.*395A>T	ENSP00000516103.1:n.*395A>T
ENST00000705252.1:c.*218A>T	ENSP00000516104.1:n.*218A>T
ENST00000705253.1:c.*218A>T	ENSP00000516105.1:n.*218A>T
ENST00000705254.1:c.355A>T	ENSP00000516106.1:p.Arg119Trp
ENST00000705255.1:n.1374A>T
ENST00000705256.1:c.807-2A>T	ENSP00000516107.1:n.807-2A>T
ENST00000366847.9:c.808A>T MANE Select	ENSP00000355812.3:p.Arg270Trp
ENST00000349556.4:c.748A>T	ENSP00000230248.6:p.Arg250Trp
ENST00000366847.8:c.808A>T	ENSP00000355812.3:p.Arg270Trp
ENST00000496181.1:n.212A>T
ENST00000622353.4:c.667A>T	ENSP00000479115.1:p.Arg223Trp
NM_001278690.1:c.667A>T	NP_001265619.1:p.Arg223Trp
NM_007045.3:c.808A>T	NP_008976.1:p.Arg270Trp
NM_194429.2:c.748A>T	NP_919410.1:p.Arg250Trp
NM_007045.4:c.808A>T MANE Select	NP_008976.1:p.Arg270Trp
NM_194429.3:c.748A>T	NP_919410.1:p.Arg250Trp
NM_001278690.2:c.667A>T	NP_001265619.1:p.Arg223Trp