Canonical Allele Identifier: CA453081404

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438283A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024795A>C , CM000668.2:g.167024795A>C	GRCh38
NC_000006.11:g.167438283A>C , CM000668.1:g.167438283A>C	GRCh37
NC_000006.10:g.167358273A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.760A>C	ENSP00000230248.6:p.Arg254=
ENST00000488525.2:c.816A>C	ENSP00000516042.1:p.Leu272=
ENST00000609590.2:n.1692A>C
ENST00000704900.1:c.397A>C	ENSP00000516059.1:p.Arg133=
ENST00000704901.1:c.*407A>C	ENSP00000516060.1:n.*407A>C
ENST00000704959.1:n.1085A>C
ENST00000704982.1:n.1530A>C
ENST00000704985.1:n.1926A>C
ENST00000704986.1:n.1926A>C
ENST00000705029.1:n.1651A>C
ENST00000705059.1:n.1475A>C
ENST00000705168.1:c.73A>C	ENSP00000516071.1:p.Arg25=
ENST00000705169.1:c.73A>C	ENSP00000516072.1:p.Arg25=
ENST00000705170.1:c.73A>C	ENSP00000516073.1:p.Arg25=
ENST00000705171.1:n.865A>C
ENST00000705173.1:c.*129A>C	ENSP00000516075.1:n.*129A>C
ENST00000705175.1:c.946A>C	ENSP00000516077.1:p.Arg316=
ENST00000705176.1:c.1006A>C	ENSP00000516078.1:p.Arg336=
ENST00000705177.1:c.*404A>C	ENSP00000516079.1:n.*404A>C
ENST00000705178.1:c.343A>C	ENSP00000516080.1:p.Arg115=
ENST00000705179.1:c.538A>C	ENSP00000516081.1:p.Arg180=
ENST00000705180.1:c.478A>C	ENSP00000516082.1:p.Arg160=
ENST00000705235.1:c.820A>C	ENSP00000516093.1:p.Arg274=
ENST00000705236.1:c.760A>C	ENSP00000516094.1:p.Arg254=
ENST00000705237.1:c.478A>C	ENSP00000516095.1:p.Arg160=
ENST00000705238.1:c.679A>C	ENSP00000516096.1:p.Arg227=
ENST00000705239.1:c.757A>C	ENSP00000516097.1:p.Arg253=
ENST00000705240.1:c.*429A>C	ENSP00000516098.1:n.*429A>C
ENST00000705241.1:c.756A>C	ENSP00000516099.1:p.Leu252=
ENST00000705242.1:c.757A>C	ENSP00000516100.1:p.Arg253=
ENST00000705249.1:c.760A>C	ENSP00000516101.1:p.Arg254=
ENST00000705250.1:c.538A>C	ENSP00000516102.1:p.Arg180=
ENST00000705251.1:c.*407A>C	ENSP00000516103.1:n.*407A>C
ENST00000705252.1:c.*230A>C	ENSP00000516104.1:n.*230A>C
ENST00000705253.1:c.*230A>C	ENSP00000516105.1:n.*230A>C
ENST00000705254.1:c.367A>C	ENSP00000516106.1:p.Arg123=
ENST00000705255.1:n.1386A>C
ENST00000705256.1:c.817A>C	ENSP00000516107.1:p.Arg273=
ENST00000366847.9:c.820A>C MANE Select	ENSP00000355812.3:p.Arg274=
ENST00000349556.4:c.760A>C	ENSP00000230248.6:p.Arg254=
ENST00000366847.8:c.820A>C	ENSP00000355812.3:p.Arg274=
ENST00000488525.1:n.6A>C
ENST00000496181.1:n.224A>C
ENST00000622353.4:c.679A>C	ENSP00000479115.1:p.Arg227=
NM_001278690.1:c.679A>C	NP_001265619.1:p.Arg227=
NM_007045.3:c.820A>C	NP_008976.1:p.Arg274=
NM_194429.2:c.760A>C	NP_919410.1:p.Arg254=
NM_007045.4:c.820A>C MANE Select	NP_008976.1:p.Arg274=
NM_194429.3:c.760A>C	NP_919410.1:p.Arg254=
NM_001278690.2:c.679A>C	NP_001265619.1:p.Arg227=