Canonical Allele Identifier: CA366410040

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438382A>C (hg19) ; chr6:g.167024894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024894A>C , CM000668.2:g.167024894A>C	GRCh38
NC_000006.11:g.167438382A>C , CM000668.1:g.167438382A>C	GRCh37
NC_000006.10:g.167358372A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859A>C	ENSP00000230248.6:p.Ser287Arg
ENST00000488525.2:c.*51A>C	ENSP00000516042.1:n.*51A>C
ENST00000609590.2:n.1791A>C
ENST00000704900.1:c.496A>C	ENSP00000516059.1:p.Ser166Arg
ENST00000704901.1:c.*506A>C	ENSP00000516060.1:n.*506A>C
ENST00000704959.1:n.1184A>C
ENST00000704982.1:n.1629A>C
ENST00000704985.1:n.2025A>C
ENST00000704986.1:n.2025A>C
ENST00000705029.1:n.1750A>C
ENST00000705059.1:n.1574A>C
ENST00000705168.1:c.172A>C	ENSP00000516071.1:p.Ser58Arg
ENST00000705169.1:c.172A>C	ENSP00000516072.1:p.Ser58Arg
ENST00000705170.1:c.172A>C	ENSP00000516073.1:p.Ser58Arg
ENST00000705171.1:n.964A>C
ENST00000705173.1:c.*228A>C	ENSP00000516075.1:n.*228A>C
ENST00000705175.1:c.1045A>C	ENSP00000516077.1:p.Ser349Arg
ENST00000705176.1:c.1105A>C	ENSP00000516078.1:p.Ser369Arg
ENST00000705177.1:c.*503A>C	ENSP00000516079.1:n.*503A>C
ENST00000705178.1:c.442A>C	ENSP00000516080.1:p.Ser148Arg
ENST00000705179.1:c.637A>C	ENSP00000516081.1:p.Ser213Arg
ENST00000705180.1:c.577A>C	ENSP00000516082.1:p.Ser193Arg
ENST00000705235.1:c.919A>C	ENSP00000516093.1:p.Arg307=
ENST00000705236.1:c.859A>C	ENSP00000516094.1:p.Arg287=
ENST00000705237.1:c.577A>C	ENSP00000516095.1:p.Arg193=
ENST00000705238.1:c.778A>C	ENSP00000516096.1:p.Ser260Arg
ENST00000705239.1:c.856A>C	ENSP00000516097.1:p.Ser286Arg
ENST00000705240.1:c.*528A>C	ENSP00000516098.1:n.*528A>C
ENST00000705241.1:c.*51A>C	ENSP00000516099.1:n.*51A>C
ENST00000705242.1:c.856A>C	ENSP00000516100.1:p.Ser286Arg
ENST00000705249.1:c.859A>C	ENSP00000516101.1:p.Ser287Arg
ENST00000705250.1:c.637A>C	ENSP00000516102.1:p.Ser213Arg
ENST00000705251.1:c.*506A>C	ENSP00000516103.1:n.*506A>C
ENST00000705252.1:c.*329A>C	ENSP00000516104.1:n.*329A>C
ENST00000705253.1:c.*329A>C	ENSP00000516105.1:n.*329A>C
ENST00000705254.1:c.466A>C	ENSP00000516106.1:p.Ser156Arg
ENST00000705255.1:n.1485A>C
ENST00000705256.1:c.916A>C	ENSP00000516107.1:p.Ser306Arg
ENST00000366847.9:c.919A>C MANE Select	ENSP00000355812.3:p.Ser307Arg
ENST00000349556.4:c.859A>C	ENSP00000230248.6:p.Ser287Arg
ENST00000366847.8:c.919A>C	ENSP00000355812.3:p.Ser307Arg
ENST00000488525.1:n.105A>C
ENST00000496181.1:n.323A>C
ENST00000622353.4:c.778A>C	ENSP00000479115.1:p.Ser260Arg
NM_001278690.1:c.778A>C	NP_001265619.1:p.Ser260Arg
NM_007045.3:c.919A>C	NP_008976.1:p.Ser307Arg
NM_194429.2:c.859A>C	NP_919410.1:p.Ser287Arg
NM_007045.4:c.919A>C MANE Select	NP_008976.1:p.Ser307Arg
NM_194429.3:c.859A>C	NP_919410.1:p.Ser287Arg
NM_001278690.2:c.778A>C	NP_001265619.1:p.Ser260Arg