Canonical Allele Identifier: CA366409963

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438344G>A (hg19) ; chr6:g.167024856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024856G>A , CM000668.2:g.167024856G>A	GRCh38
NC_000006.11:g.167438344G>A , CM000668.1:g.167438344G>A	GRCh37
NC_000006.10:g.167358334G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.821G>A	ENSP00000230248.6:p.Ser274Asn
ENST00000488525.2:c.*13G>A	ENSP00000516042.1:n.*13G>A
ENST00000609590.2:n.1753G>A
ENST00000704900.1:c.458G>A	ENSP00000516059.1:p.Ser153Asn
ENST00000704901.1:c.*468G>A	ENSP00000516060.1:n.*468G>A
ENST00000704959.1:n.1146G>A
ENST00000704982.1:n.1591G>A
ENST00000704985.1:n.1987G>A
ENST00000704986.1:n.1987G>A
ENST00000705029.1:n.1712G>A
ENST00000705059.1:n.1536G>A
ENST00000705168.1:c.134G>A	ENSP00000516071.1:p.Ser45Asn
ENST00000705169.1:c.134G>A	ENSP00000516072.1:p.Ser45Asn
ENST00000705170.1:c.134G>A	ENSP00000516073.1:p.Ser45Asn
ENST00000705171.1:n.926G>A
ENST00000705173.1:c.*190G>A	ENSP00000516075.1:n.*190G>A
ENST00000705175.1:c.1007G>A	ENSP00000516077.1:p.Ser336Asn
ENST00000705176.1:c.1067G>A	ENSP00000516078.1:p.Ser356Asn
ENST00000705177.1:c.*465G>A	ENSP00000516079.1:n.*465G>A
ENST00000705178.1:c.404G>A	ENSP00000516080.1:p.Ser135Asn
ENST00000705179.1:c.599G>A	ENSP00000516081.1:p.Ser200Asn
ENST00000705180.1:c.539G>A	ENSP00000516082.1:p.Ser180Asn
ENST00000705235.1:c.881G>A	ENSP00000516093.1:p.Ser294Asn
ENST00000705236.1:c.821G>A	ENSP00000516094.1:p.Ser274Asn
ENST00000705237.1:c.539G>A	ENSP00000516095.1:p.Ser180Asn
ENST00000705238.1:c.740G>A	ENSP00000516096.1:p.Ser247Asn
ENST00000705239.1:c.818G>A	ENSP00000516097.1:p.Ser273Asn
ENST00000705240.1:c.*490G>A	ENSP00000516098.1:n.*490G>A
ENST00000705241.1:c.*13G>A	ENSP00000516099.1:n.*13G>A
ENST00000705242.1:c.818G>A	ENSP00000516100.1:p.Ser273Asn
ENST00000705249.1:c.821G>A	ENSP00000516101.1:p.Ser274Asn
ENST00000705250.1:c.599G>A	ENSP00000516102.1:p.Ser200Asn
ENST00000705251.1:c.*468G>A	ENSP00000516103.1:n.*468G>A
ENST00000705252.1:c.*291G>A	ENSP00000516104.1:n.*291G>A
ENST00000705253.1:c.*291G>A	ENSP00000516105.1:n.*291G>A
ENST00000705254.1:c.428G>A	ENSP00000516106.1:p.Ser143Asn
ENST00000705255.1:n.1447G>A
ENST00000705256.1:c.878G>A	ENSP00000516107.1:p.Ser293Asn
ENST00000366847.9:c.881G>A MANE Select	ENSP00000355812.3:p.Ser294Asn
ENST00000349556.4:c.821G>A	ENSP00000230248.6:p.Ser274Asn
ENST00000366847.8:c.881G>A	ENSP00000355812.3:p.Ser294Asn
ENST00000488525.1:n.67G>A
ENST00000496181.1:n.285G>A
ENST00000622353.4:c.740G>A	ENSP00000479115.1:p.Ser247Asn
NM_001278690.1:c.740G>A	NP_001265619.1:p.Ser247Asn
NM_007045.3:c.881G>A	NP_008976.1:p.Ser294Asn
NM_194429.2:c.821G>A	NP_919410.1:p.Ser274Asn
NM_007045.4:c.881G>A MANE Select	NP_008976.1:p.Ser294Asn
NM_194429.3:c.821G>A	NP_919410.1:p.Ser274Asn
NM_001278690.2:c.740G>A	NP_001265619.1:p.Ser247Asn