Canonical Allele Identifier: CA366409821

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438277G>A (hg19) ; chr6:g.167024789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024789G>A , CM000668.2:g.167024789G>A	GRCh38
NC_000006.11:g.167438277G>A , CM000668.1:g.167438277G>A	GRCh37
NC_000006.10:g.167358267G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.754G>A	ENSP00000230248.6:p.Glu252Lys
ENST00000488525.2:c.810G>A	ENSP00000516042.1:p.Arg270=
ENST00000609590.2:n.1686G>A
ENST00000704900.1:c.391G>A	ENSP00000516059.1:p.Glu131Lys
ENST00000704901.1:c.*401G>A	ENSP00000516060.1:n.*401G>A
ENST00000704959.1:n.1079G>A
ENST00000704982.1:n.1524G>A
ENST00000704985.1:n.1920G>A
ENST00000704986.1:n.1920G>A
ENST00000705029.1:n.1645G>A
ENST00000705059.1:n.1469G>A
ENST00000705168.1:c.67G>A	ENSP00000516071.1:p.Glu23Lys
ENST00000705169.1:c.67G>A	ENSP00000516072.1:p.Glu23Lys
ENST00000705170.1:c.67G>A	ENSP00000516073.1:p.Glu23Lys
ENST00000705171.1:n.859G>A
ENST00000705173.1:c.*123G>A	ENSP00000516075.1:n.*123G>A
ENST00000705175.1:c.940G>A	ENSP00000516077.1:p.Glu314Lys
ENST00000705176.1:c.1000G>A	ENSP00000516078.1:p.Glu334Lys
ENST00000705177.1:c.*398G>A	ENSP00000516079.1:n.*398G>A
ENST00000705178.1:c.337G>A	ENSP00000516080.1:p.Glu113Lys
ENST00000705179.1:c.532G>A	ENSP00000516081.1:p.Glu178Lys
ENST00000705180.1:c.472G>A	ENSP00000516082.1:p.Glu158Lys
ENST00000705235.1:c.814G>A	ENSP00000516093.1:p.Glu272Lys
ENST00000705236.1:c.754G>A	ENSP00000516094.1:p.Glu252Lys
ENST00000705237.1:c.472G>A	ENSP00000516095.1:p.Glu158Lys
ENST00000705238.1:c.673G>A	ENSP00000516096.1:p.Glu225Lys
ENST00000705239.1:c.751G>A	ENSP00000516097.1:p.Glu251Lys
ENST00000705240.1:c.*423G>A	ENSP00000516098.1:n.*423G>A
ENST00000705241.1:c.750G>A	ENSP00000516099.1:p.Arg250=
ENST00000705242.1:c.751G>A	ENSP00000516100.1:p.Glu251Lys
ENST00000705249.1:c.754G>A	ENSP00000516101.1:p.Glu252Lys
ENST00000705250.1:c.532G>A	ENSP00000516102.1:p.Glu178Lys
ENST00000705251.1:c.*401G>A	ENSP00000516103.1:n.*401G>A
ENST00000705252.1:c.*224G>A	ENSP00000516104.1:n.*224G>A
ENST00000705253.1:c.*224G>A	ENSP00000516105.1:n.*224G>A
ENST00000705254.1:c.361G>A	ENSP00000516106.1:p.Glu121Lys
ENST00000705255.1:n.1380G>A
ENST00000705256.1:c.811G>A	ENSP00000516107.1:p.Glu271Lys
ENST00000366847.9:c.814G>A MANE Select	ENSP00000355812.3:p.Glu272Lys
ENST00000349556.4:c.754G>A	ENSP00000230248.6:p.Glu252Lys
ENST00000366847.8:c.814G>A	ENSP00000355812.3:p.Glu272Lys
ENST00000496181.1:n.218G>A
ENST00000622353.4:c.673G>A	ENSP00000479115.1:p.Glu225Lys
NM_001278690.1:c.673G>A	NP_001265619.1:p.Glu225Lys
NM_007045.3:c.814G>A	NP_008976.1:p.Glu272Lys
NM_194429.2:c.754G>A	NP_919410.1:p.Glu252Lys
NM_007045.4:c.814G>A MANE Select	NP_008976.1:p.Glu272Lys
NM_194429.3:c.754G>A	NP_919410.1:p.Glu252Lys
NM_001278690.2:c.673G>A	NP_001265619.1:p.Glu225Lys