Canonical Allele Identifier: CA366409907

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438318T>A (hg19) ; chr6:g.167024830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024830T>A , CM000668.2:g.167024830T>A	GRCh38
NC_000006.11:g.167438318T>A , CM000668.1:g.167438318T>A	GRCh37
NC_000006.10:g.167358308T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.795T>A	ENSP00000230248.6:p.Asp265Glu
ENST00000488525.2:c.851T>A	ENSP00000516042.1:p.Met284Lys
ENST00000609590.2:n.1727T>A
ENST00000704900.1:c.432T>A	ENSP00000516059.1:p.Asp144Glu
ENST00000704901.1:c.*442T>A	ENSP00000516060.1:n.*442T>A
ENST00000704959.1:n.1120T>A
ENST00000704982.1:n.1565T>A
ENST00000704985.1:n.1961T>A
ENST00000704986.1:n.1961T>A
ENST00000705029.1:n.1686T>A
ENST00000705059.1:n.1510T>A
ENST00000705168.1:c.108T>A	ENSP00000516071.1:p.Asp36Glu
ENST00000705169.1:c.108T>A	ENSP00000516072.1:p.Asp36Glu
ENST00000705170.1:c.108T>A	ENSP00000516073.1:p.Asp36Glu
ENST00000705171.1:n.900T>A
ENST00000705173.1:c.*164T>A	ENSP00000516075.1:n.*164T>A
ENST00000705175.1:c.981T>A	ENSP00000516077.1:p.Asp327Glu
ENST00000705176.1:c.1041T>A	ENSP00000516078.1:p.Asp347Glu
ENST00000705177.1:c.*439T>A	ENSP00000516079.1:n.*439T>A
ENST00000705178.1:c.378T>A	ENSP00000516080.1:p.Asp126Glu
ENST00000705179.1:c.573T>A	ENSP00000516081.1:p.Asp191Glu
ENST00000705180.1:c.513T>A	ENSP00000516082.1:p.Asp171Glu
ENST00000705235.1:c.855T>A	ENSP00000516093.1:p.Asp285Glu
ENST00000705236.1:c.795T>A	ENSP00000516094.1:p.Asp265Glu
ENST00000705237.1:c.513T>A	ENSP00000516095.1:p.Asp171Glu
ENST00000705238.1:c.714T>A	ENSP00000516096.1:p.Asp238Glu
ENST00000705239.1:c.792T>A	ENSP00000516097.1:p.Asp264Glu
ENST00000705240.1:c.*464T>A	ENSP00000516098.1:n.*464T>A
ENST00000705241.1:c.791T>A	ENSP00000516099.1:p.Met264Lys
ENST00000705242.1:c.792T>A	ENSP00000516100.1:p.Asp264Glu
ENST00000705249.1:c.795T>A	ENSP00000516101.1:p.Asp265Glu
ENST00000705250.1:c.573T>A	ENSP00000516102.1:p.Asp191Glu
ENST00000705251.1:c.*442T>A	ENSP00000516103.1:n.*442T>A
ENST00000705252.1:c.*265T>A	ENSP00000516104.1:n.*265T>A
ENST00000705253.1:c.*265T>A	ENSP00000516105.1:n.*265T>A
ENST00000705254.1:c.402T>A	ENSP00000516106.1:p.Asp134Glu
ENST00000705255.1:n.1421T>A
ENST00000705256.1:c.852T>A	ENSP00000516107.1:p.Asp284Glu
ENST00000366847.9:c.855T>A MANE Select	ENSP00000355812.3:p.Asp285Glu
ENST00000349556.4:c.795T>A	ENSP00000230248.6:p.Asp265Glu
ENST00000366847.8:c.855T>A	ENSP00000355812.3:p.Asp285Glu
ENST00000488525.1:n.41T>A
ENST00000496181.1:n.259T>A
ENST00000622353.4:c.714T>A	ENSP00000479115.1:p.Asp238Glu
NM_001278690.1:c.714T>A	NP_001265619.1:p.Asp238Glu
NM_007045.3:c.855T>A	NP_008976.1:p.Asp285Glu
NM_194429.2:c.795T>A	NP_919410.1:p.Asp265Glu
NM_007045.4:c.855T>A MANE Select	NP_008976.1:p.Asp285Glu
NM_194429.3:c.795T>A	NP_919410.1:p.Asp265Glu
NM_001278690.2:c.714T>A	NP_001265619.1:p.Asp238Glu