Canonical Allele Identifier: CA366409986

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438356G>C (hg19) ; chr6:g.167024868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024868G>C , CM000668.2:g.167024868G>C	GRCh38
NC_000006.11:g.167438356G>C , CM000668.1:g.167438356G>C	GRCh37
NC_000006.10:g.167358346G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.833G>C	ENSP00000230248.6:p.Gly278Ala
ENST00000488525.2:c.*25G>C	ENSP00000516042.1:n.*25G>C
ENST00000609590.2:n.1765G>C
ENST00000704900.1:c.470G>C	ENSP00000516059.1:p.Gly157Ala
ENST00000704901.1:c.*480G>C	ENSP00000516060.1:n.*480G>C
ENST00000704959.1:n.1158G>C
ENST00000704982.1:n.1603G>C
ENST00000704985.1:n.1999G>C
ENST00000704986.1:n.1999G>C
ENST00000705029.1:n.1724G>C
ENST00000705059.1:n.1548G>C
ENST00000705168.1:c.146G>C	ENSP00000516071.1:p.Gly49Ala
ENST00000705169.1:c.146G>C	ENSP00000516072.1:p.Gly49Ala
ENST00000705170.1:c.146G>C	ENSP00000516073.1:p.Gly49Ala
ENST00000705171.1:n.938G>C
ENST00000705173.1:c.*202G>C	ENSP00000516075.1:n.*202G>C
ENST00000705175.1:c.1019G>C	ENSP00000516077.1:p.Gly340Ala
ENST00000705176.1:c.1079G>C	ENSP00000516078.1:p.Gly360Ala
ENST00000705177.1:c.*477G>C	ENSP00000516079.1:n.*477G>C
ENST00000705178.1:c.416G>C	ENSP00000516080.1:p.Gly139Ala
ENST00000705179.1:c.611G>C	ENSP00000516081.1:p.Gly204Ala
ENST00000705180.1:c.551G>C	ENSP00000516082.1:p.Gly184Ala
ENST00000705235.1:c.893G>C	ENSP00000516093.1:p.Gly298Ala
ENST00000705236.1:c.833G>C	ENSP00000516094.1:p.Gly278Ala
ENST00000705237.1:c.551G>C	ENSP00000516095.1:p.Gly184Ala
ENST00000705238.1:c.752G>C	ENSP00000516096.1:p.Gly251Ala
ENST00000705239.1:c.830G>C	ENSP00000516097.1:p.Gly277Ala
ENST00000705240.1:c.*502G>C	ENSP00000516098.1:n.*502G>C
ENST00000705241.1:c.*25G>C	ENSP00000516099.1:n.*25G>C
ENST00000705242.1:c.830G>C	ENSP00000516100.1:p.Gly277Ala
ENST00000705249.1:c.833G>C	ENSP00000516101.1:p.Gly278Ala
ENST00000705250.1:c.611G>C	ENSP00000516102.1:p.Gly204Ala
ENST00000705251.1:c.*480G>C	ENSP00000516103.1:n.*480G>C
ENST00000705252.1:c.*303G>C	ENSP00000516104.1:n.*303G>C
ENST00000705253.1:c.*303G>C	ENSP00000516105.1:n.*303G>C
ENST00000705254.1:c.440G>C	ENSP00000516106.1:p.Gly147Ala
ENST00000705255.1:n.1459G>C
ENST00000705256.1:c.890G>C	ENSP00000516107.1:p.Gly297Ala
ENST00000366847.9:c.893G>C MANE Select	ENSP00000355812.3:p.Gly298Ala
ENST00000349556.4:c.833G>C	ENSP00000230248.6:p.Gly278Ala
ENST00000366847.8:c.893G>C	ENSP00000355812.3:p.Gly298Ala
ENST00000488525.1:n.79G>C
ENST00000496181.1:n.297G>C
ENST00000622353.4:c.752G>C	ENSP00000479115.1:p.Gly251Ala
NM_001278690.1:c.752G>C	NP_001265619.1:p.Gly251Ala
NM_007045.3:c.893G>C	NP_008976.1:p.Gly298Ala
NM_194429.2:c.833G>C	NP_919410.1:p.Gly278Ala
NM_007045.4:c.893G>C MANE Select	NP_008976.1:p.Gly298Ala
NM_194429.3:c.833G>C	NP_919410.1:p.Gly278Ala
NM_001278690.2:c.752G>C	NP_001265619.1:p.Gly251Ala