Canonical Allele Identifier: CA366409854

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438291A>C (hg19) ; chr6:g.167024803A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024803A>C , CM000668.2:g.167024803A>C	GRCh38
NC_000006.11:g.167438291A>C , CM000668.1:g.167438291A>C	GRCh37
NC_000006.10:g.167358281A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.768A>C	ENSP00000230248.6:p.Gln256His
ENST00000488525.2:c.824A>C	ENSP00000516042.1:p.Lys275Thr
ENST00000609590.2:n.1700A>C
ENST00000704900.1:c.405A>C	ENSP00000516059.1:p.Gln135His
ENST00000704901.1:c.*415A>C	ENSP00000516060.1:n.*415A>C
ENST00000704959.1:n.1093A>C
ENST00000704982.1:n.1538A>C
ENST00000704985.1:n.1934A>C
ENST00000704986.1:n.1934A>C
ENST00000705029.1:n.1659A>C
ENST00000705059.1:n.1483A>C
ENST00000705168.1:c.81A>C	ENSP00000516071.1:p.Gln27His
ENST00000705169.1:c.81A>C	ENSP00000516072.1:p.Gln27His
ENST00000705170.1:c.81A>C	ENSP00000516073.1:p.Gln27His
ENST00000705171.1:n.873A>C
ENST00000705173.1:c.*137A>C	ENSP00000516075.1:n.*137A>C
ENST00000705175.1:c.954A>C	ENSP00000516077.1:p.Gln318His
ENST00000705176.1:c.1014A>C	ENSP00000516078.1:p.Gln338His
ENST00000705177.1:c.*412A>C	ENSP00000516079.1:n.*412A>C
ENST00000705178.1:c.351A>C	ENSP00000516080.1:p.Gln117His
ENST00000705179.1:c.546A>C	ENSP00000516081.1:p.Gln182His
ENST00000705180.1:c.486A>C	ENSP00000516082.1:p.Gln162His
ENST00000705235.1:c.828A>C	ENSP00000516093.1:p.Gln276His
ENST00000705236.1:c.768A>C	ENSP00000516094.1:p.Gln256His
ENST00000705237.1:c.486A>C	ENSP00000516095.1:p.Gln162His
ENST00000705238.1:c.687A>C	ENSP00000516096.1:p.Gln229His
ENST00000705239.1:c.765A>C	ENSP00000516097.1:p.Gln255His
ENST00000705240.1:c.*437A>C	ENSP00000516098.1:n.*437A>C
ENST00000705241.1:c.764A>C	ENSP00000516099.1:p.Lys255Thr
ENST00000705242.1:c.765A>C	ENSP00000516100.1:p.Gln255His
ENST00000705249.1:c.768A>C	ENSP00000516101.1:p.Gln256His
ENST00000705250.1:c.546A>C	ENSP00000516102.1:p.Gln182His
ENST00000705251.1:c.*415A>C	ENSP00000516103.1:n.*415A>C
ENST00000705252.1:c.*238A>C	ENSP00000516104.1:n.*238A>C
ENST00000705253.1:c.*238A>C	ENSP00000516105.1:n.*238A>C
ENST00000705254.1:c.375A>C	ENSP00000516106.1:p.Gln125His
ENST00000705255.1:n.1394A>C
ENST00000705256.1:c.825A>C	ENSP00000516107.1:p.Gln275His
ENST00000366847.9:c.828A>C MANE Select	ENSP00000355812.3:p.Gln276His
ENST00000349556.4:c.768A>C	ENSP00000230248.6:p.Gln256His
ENST00000366847.8:c.828A>C	ENSP00000355812.3:p.Gln276His
ENST00000488525.1:n.14A>C
ENST00000496181.1:n.232A>C
ENST00000622353.4:c.687A>C	ENSP00000479115.1:p.Gln229His
NM_001278690.1:c.687A>C	NP_001265619.1:p.Gln229His
NM_007045.3:c.828A>C	NP_008976.1:p.Gln276His
NM_194429.2:c.768A>C	NP_919410.1:p.Gln256His
NM_007045.4:c.828A>C MANE Select	NP_008976.1:p.Gln276His
NM_194429.3:c.768A>C	NP_919410.1:p.Gln256His
NM_001278690.2:c.687A>C	NP_001265619.1:p.Gln229His