Canonical Allele Identifier: CA366409932

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438331A>C (hg19) ; chr6:g.167024843A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024843A>C , CM000668.2:g.167024843A>C	GRCh38
NC_000006.11:g.167438331A>C , CM000668.1:g.167438331A>C	GRCh37
NC_000006.10:g.167358321A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.808A>C	ENSP00000230248.6:p.Lys270Gln
ENST00000488525.2:c.864A>C	ENSP00000516042.1:p.Ter288Tyr
ENST00000609590.2:n.1740A>C
ENST00000704900.1:c.445A>C	ENSP00000516059.1:p.Lys149Gln
ENST00000704901.1:c.*455A>C	ENSP00000516060.1:n.*455A>C
ENST00000704959.1:n.1133A>C
ENST00000704982.1:n.1578A>C
ENST00000704985.1:n.1974A>C
ENST00000704986.1:n.1974A>C
ENST00000705029.1:n.1699A>C
ENST00000705059.1:n.1523A>C
ENST00000705168.1:c.121A>C	ENSP00000516071.1:p.Lys41Gln
ENST00000705169.1:c.121A>C	ENSP00000516072.1:p.Lys41Gln
ENST00000705170.1:c.121A>C	ENSP00000516073.1:p.Lys41Gln
ENST00000705171.1:n.913A>C
ENST00000705173.1:c.*177A>C	ENSP00000516075.1:n.*177A>C
ENST00000705175.1:c.994A>C	ENSP00000516077.1:p.Lys332Gln
ENST00000705176.1:c.1054A>C	ENSP00000516078.1:p.Lys352Gln
ENST00000705177.1:c.*452A>C	ENSP00000516079.1:n.*452A>C
ENST00000705178.1:c.391A>C	ENSP00000516080.1:p.Lys131Gln
ENST00000705179.1:c.586A>C	ENSP00000516081.1:p.Lys196Gln
ENST00000705180.1:c.526A>C	ENSP00000516082.1:p.Lys176Gln
ENST00000705235.1:c.868A>C	ENSP00000516093.1:p.Lys290Gln
ENST00000705236.1:c.808A>C	ENSP00000516094.1:p.Lys270Gln
ENST00000705237.1:c.526A>C	ENSP00000516095.1:p.Lys176Gln
ENST00000705238.1:c.727A>C	ENSP00000516096.1:p.Lys243Gln
ENST00000705239.1:c.805A>C	ENSP00000516097.1:p.Lys269Gln
ENST00000705240.1:c.*477A>C	ENSP00000516098.1:n.*477A>C
ENST00000705241.1:c.804A>C	ENSP00000516099.1:p.Ter268Tyr
ENST00000705242.1:c.805A>C	ENSP00000516100.1:p.Lys269Gln
ENST00000705249.1:c.808A>C	ENSP00000516101.1:p.Lys270Gln
ENST00000705250.1:c.586A>C	ENSP00000516102.1:p.Lys196Gln
ENST00000705251.1:c.*455A>C	ENSP00000516103.1:n.*455A>C
ENST00000705252.1:c.*278A>C	ENSP00000516104.1:n.*278A>C
ENST00000705253.1:c.*278A>C	ENSP00000516105.1:n.*278A>C
ENST00000705254.1:c.415A>C	ENSP00000516106.1:p.Lys139Gln
ENST00000705255.1:n.1434A>C
ENST00000705256.1:c.865A>C	ENSP00000516107.1:p.Lys289Gln
ENST00000366847.9:c.868A>C MANE Select	ENSP00000355812.3:p.Lys290Gln
ENST00000349556.4:c.808A>C	ENSP00000230248.6:p.Lys270Gln
ENST00000366847.8:c.868A>C	ENSP00000355812.3:p.Lys290Gln
ENST00000488525.1:n.54A>C
ENST00000496181.1:n.272A>C
ENST00000622353.4:c.727A>C	ENSP00000479115.1:p.Lys243Gln
NM_001278690.1:c.727A>C	NP_001265619.1:p.Lys243Gln
NM_007045.3:c.868A>C	NP_008976.1:p.Lys290Gln
NM_194429.2:c.808A>C	NP_919410.1:p.Lys270Gln
NM_007045.4:c.868A>C MANE Select	NP_008976.1:p.Lys290Gln
NM_194429.3:c.808A>C	NP_919410.1:p.Lys270Gln
NM_001278690.2:c.727A>C	NP_001265619.1:p.Lys243Gln