Canonical Allele Identifier: CA366409812

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438273G>C (hg19) ; chr6:g.167024785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024785G>C , CM000668.2:g.167024785G>C	GRCh38
NC_000006.11:g.167438273G>C , CM000668.1:g.167438273G>C	GRCh37
NC_000006.10:g.167358263G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.750G>C	ENSP00000230248.6:p.Arg250Ser
ENST00000488525.2:c.806G>C	ENSP00000516042.1:p.Gly269Ala
ENST00000609590.2:n.1682G>C
ENST00000704900.1:c.387G>C	ENSP00000516059.1:p.Arg129Ser
ENST00000704901.1:c.*397G>C	ENSP00000516060.1:n.*397G>C
ENST00000704959.1:n.1075G>C
ENST00000704982.1:n.1520G>C
ENST00000704985.1:n.1916G>C
ENST00000704986.1:n.1916G>C
ENST00000705029.1:n.1641G>C
ENST00000705059.1:n.1465G>C
ENST00000705168.1:c.63G>C	ENSP00000516071.1:p.Arg21Ser
ENST00000705169.1:c.63G>C	ENSP00000516072.1:p.Arg21Ser
ENST00000705170.1:c.63G>C	ENSP00000516073.1:p.Arg21Ser
ENST00000705171.1:n.855G>C
ENST00000705173.1:c.*119G>C	ENSP00000516075.1:n.*119G>C
ENST00000705175.1:c.936G>C	ENSP00000516077.1:p.Arg312Ser
ENST00000705176.1:c.996G>C	ENSP00000516078.1:p.Arg332Ser
ENST00000705177.1:c.*394G>C	ENSP00000516079.1:n.*394G>C
ENST00000705178.1:c.333G>C	ENSP00000516080.1:p.Arg111Ser
ENST00000705179.1:c.528G>C	ENSP00000516081.1:p.Arg176Ser
ENST00000705180.1:c.468G>C	ENSP00000516082.1:p.Arg156Ser
ENST00000705235.1:c.810G>C	ENSP00000516093.1:p.Arg270Ser
ENST00000705236.1:c.750G>C	ENSP00000516094.1:p.Arg250Ser
ENST00000705237.1:c.468G>C	ENSP00000516095.1:p.Arg156Ser
ENST00000705238.1:c.669G>C	ENSP00000516096.1:p.Arg223Ser
ENST00000705239.1:c.747G>C	ENSP00000516097.1:p.Leu249Phe
ENST00000705240.1:c.*419G>C	ENSP00000516098.1:n.*419G>C
ENST00000705241.1:c.746G>C	ENSP00000516099.1:p.Gly249Ala
ENST00000705242.1:c.747G>C	ENSP00000516100.1:p.Arg249Ser
ENST00000705249.1:c.750G>C	ENSP00000516101.1:p.Arg250Ser
ENST00000705250.1:c.528G>C	ENSP00000516102.1:p.Arg176Ser
ENST00000705251.1:c.*397G>C	ENSP00000516103.1:n.*397G>C
ENST00000705252.1:c.*220G>C	ENSP00000516104.1:n.*220G>C
ENST00000705253.1:c.*220G>C	ENSP00000516105.1:n.*220G>C
ENST00000705254.1:c.357G>C	ENSP00000516106.1:p.Arg119Ser
ENST00000705255.1:n.1376G>C
ENST00000705256.1:c.807G>C	ENSP00000516107.1:p.Leu269Phe
ENST00000366847.9:c.810G>C MANE Select	ENSP00000355812.3:p.Arg270Ser
ENST00000349556.4:c.750G>C	ENSP00000230248.6:p.Arg250Ser
ENST00000366847.8:c.810G>C	ENSP00000355812.3:p.Arg270Ser
ENST00000496181.1:n.214G>C
ENST00000622353.4:c.669G>C	ENSP00000479115.1:p.Arg223Ser
NM_001278690.1:c.669G>C	NP_001265619.1:p.Arg223Ser
NM_007045.3:c.810G>C	NP_008976.1:p.Arg270Ser
NM_194429.2:c.750G>C	NP_919410.1:p.Arg250Ser
NM_007045.4:c.810G>C MANE Select	NP_008976.1:p.Arg270Ser
NM_194429.3:c.750G>C	NP_919410.1:p.Arg250Ser
NM_001278690.2:c.669G>C	NP_001265619.1:p.Arg223Ser