Canonical Allele Identifier: CA366409983

Gene: CEP43

Linked Data

• COSMIC: COSM5869749
• MyVariant Identifiers: chr6:g.167438355G>A (hg19) ; chr6:g.167024867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024867G>A , CM000668.2:g.167024867G>A	GRCh38
NC_000006.11:g.167438355G>A , CM000668.1:g.167438355G>A	GRCh37
NC_000006.10:g.167358345G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.832G>A	ENSP00000230248.6:p.Gly278Arg
ENST00000488525.2:c.*24G>A	ENSP00000516042.1:n.*24G>A
ENST00000609590.2:n.1764G>A
ENST00000704900.1:c.469G>A	ENSP00000516059.1:p.Gly157Arg
ENST00000704901.1:c.*479G>A	ENSP00000516060.1:n.*479G>A
ENST00000704959.1:n.1157G>A
ENST00000704982.1:n.1602G>A
ENST00000704985.1:n.1998G>A
ENST00000704986.1:n.1998G>A
ENST00000705029.1:n.1723G>A
ENST00000705059.1:n.1547G>A
ENST00000705168.1:c.145G>A	ENSP00000516071.1:p.Gly49Arg
ENST00000705169.1:c.145G>A	ENSP00000516072.1:p.Gly49Arg
ENST00000705170.1:c.145G>A	ENSP00000516073.1:p.Gly49Arg
ENST00000705171.1:n.937G>A
ENST00000705173.1:c.*201G>A	ENSP00000516075.1:n.*201G>A
ENST00000705175.1:c.1018G>A	ENSP00000516077.1:p.Gly340Arg
ENST00000705176.1:c.1078G>A	ENSP00000516078.1:p.Gly360Arg
ENST00000705177.1:c.*476G>A	ENSP00000516079.1:n.*476G>A
ENST00000705178.1:c.415G>A	ENSP00000516080.1:p.Gly139Arg
ENST00000705179.1:c.610G>A	ENSP00000516081.1:p.Gly204Arg
ENST00000705180.1:c.550G>A	ENSP00000516082.1:p.Gly184Arg
ENST00000705235.1:c.892G>A	ENSP00000516093.1:p.Gly298Arg
ENST00000705236.1:c.832G>A	ENSP00000516094.1:p.Gly278Arg
ENST00000705237.1:c.550G>A	ENSP00000516095.1:p.Gly184Arg
ENST00000705238.1:c.751G>A	ENSP00000516096.1:p.Gly251Arg
ENST00000705239.1:c.829G>A	ENSP00000516097.1:p.Gly277Arg
ENST00000705240.1:c.*501G>A	ENSP00000516098.1:n.*501G>A
ENST00000705241.1:c.*24G>A	ENSP00000516099.1:n.*24G>A
ENST00000705242.1:c.829G>A	ENSP00000516100.1:p.Gly277Arg
ENST00000705249.1:c.832G>A	ENSP00000516101.1:p.Gly278Arg
ENST00000705250.1:c.610G>A	ENSP00000516102.1:p.Gly204Arg
ENST00000705251.1:c.*479G>A	ENSP00000516103.1:n.*479G>A
ENST00000705252.1:c.*302G>A	ENSP00000516104.1:n.*302G>A
ENST00000705253.1:c.*302G>A	ENSP00000516105.1:n.*302G>A
ENST00000705254.1:c.439G>A	ENSP00000516106.1:p.Gly147Arg
ENST00000705255.1:n.1458G>A
ENST00000705256.1:c.889G>A	ENSP00000516107.1:p.Gly297Arg
ENST00000366847.9:c.892G>A MANE Select	ENSP00000355812.3:p.Gly298Arg
ENST00000349556.4:c.832G>A	ENSP00000230248.6:p.Gly278Arg
ENST00000366847.8:c.892G>A	ENSP00000355812.3:p.Gly298Arg
ENST00000488525.1:n.78G>A
ENST00000496181.1:n.296G>A
ENST00000622353.4:c.751G>A	ENSP00000479115.1:p.Gly251Arg
NM_001278690.1:c.751G>A	NP_001265619.1:p.Gly251Arg
NM_007045.3:c.892G>A	NP_008976.1:p.Gly298Arg
NM_194429.2:c.832G>A	NP_919410.1:p.Gly278Arg
NM_007045.4:c.892G>A MANE Select	NP_008976.1:p.Gly298Arg
NM_194429.3:c.832G>A	NP_919410.1:p.Gly278Arg
NM_001278690.2:c.751G>A	NP_001265619.1:p.Gly251Arg