Canonical Allele Identifier: CA453081420

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438309G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024821G>C , CM000668.2:g.167024821G>C	GRCh38
NC_000006.11:g.167438309G>C , CM000668.1:g.167438309G>C	GRCh37
NC_000006.10:g.167358299G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.786G>C	ENSP00000230248.6:p.Ser262=
ENST00000488525.2:c.842G>C	ENSP00000516042.1:p.Arg281Pro
ENST00000609590.2:n.1718G>C
ENST00000704900.1:c.423G>C	ENSP00000516059.1:p.Ser141=
ENST00000704901.1:c.*433G>C	ENSP00000516060.1:n.*433G>C
ENST00000704959.1:n.1111G>C
ENST00000704982.1:n.1556G>C
ENST00000704985.1:n.1952G>C
ENST00000704986.1:n.1952G>C
ENST00000705029.1:n.1677G>C
ENST00000705059.1:n.1501G>C
ENST00000705168.1:c.99G>C	ENSP00000516071.1:p.Ser33=
ENST00000705169.1:c.99G>C	ENSP00000516072.1:p.Ser33=
ENST00000705170.1:c.99G>C	ENSP00000516073.1:p.Ser33=
ENST00000705171.1:n.891G>C
ENST00000705173.1:c.*155G>C	ENSP00000516075.1:n.*155G>C
ENST00000705175.1:c.972G>C	ENSP00000516077.1:p.Ser324=
ENST00000705176.1:c.1032G>C	ENSP00000516078.1:p.Ser344=
ENST00000705177.1:c.*430G>C	ENSP00000516079.1:n.*430G>C
ENST00000705178.1:c.369G>C	ENSP00000516080.1:p.Ser123=
ENST00000705179.1:c.564G>C	ENSP00000516081.1:p.Ser188=
ENST00000705180.1:c.504G>C	ENSP00000516082.1:p.Ser168=
ENST00000705235.1:c.846G>C	ENSP00000516093.1:p.Ser282=
ENST00000705236.1:c.786G>C	ENSP00000516094.1:p.Ser262=
ENST00000705237.1:c.504G>C	ENSP00000516095.1:p.Ser168=
ENST00000705238.1:c.705G>C	ENSP00000516096.1:p.Ser235=
ENST00000705239.1:c.783G>C	ENSP00000516097.1:p.Ser261=
ENST00000705240.1:c.*455G>C	ENSP00000516098.1:n.*455G>C
ENST00000705241.1:c.782G>C	ENSP00000516099.1:p.Arg261Pro
ENST00000705242.1:c.783G>C	ENSP00000516100.1:p.Ser261=
ENST00000705249.1:c.786G>C	ENSP00000516101.1:p.Ser262=
ENST00000705250.1:c.564G>C	ENSP00000516102.1:p.Ser188=
ENST00000705251.1:c.*433G>C	ENSP00000516103.1:n.*433G>C
ENST00000705252.1:c.*256G>C	ENSP00000516104.1:n.*256G>C
ENST00000705253.1:c.*256G>C	ENSP00000516105.1:n.*256G>C
ENST00000705254.1:c.393G>C	ENSP00000516106.1:p.Ser131=
ENST00000705255.1:n.1412G>C
ENST00000705256.1:c.843G>C	ENSP00000516107.1:p.Ser281=
ENST00000366847.9:c.846G>C MANE Select	ENSP00000355812.3:p.Ser282=
ENST00000349556.4:c.786G>C	ENSP00000230248.6:p.Ser262=
ENST00000366847.8:c.846G>C	ENSP00000355812.3:p.Ser282=
ENST00000488525.1:n.32G>C
ENST00000496181.1:n.250G>C
ENST00000622353.4:c.705G>C	ENSP00000479115.1:p.Ser235=
NM_001278690.1:c.705G>C	NP_001265619.1:p.Ser235=
NM_007045.3:c.846G>C	NP_008976.1:p.Ser282=
NM_194429.2:c.786G>C	NP_919410.1:p.Ser262=
NM_007045.4:c.846G>C MANE Select	NP_008976.1:p.Ser282=
NM_194429.3:c.786G>C	NP_919410.1:p.Ser262=
NM_001278690.2:c.705G>C	NP_001265619.1:p.Ser235=