Canonical Allele Identifier: CA366409931

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438330A>T (hg19) ; chr6:g.167024842A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024842A>T , CM000668.2:g.167024842A>T	GRCh38
NC_000006.11:g.167438330A>T , CM000668.1:g.167438330A>T	GRCh37
NC_000006.10:g.167358320A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.807A>T	ENSP00000230248.6:p.Leu269Phe
ENST00000488525.2:c.863A>T	ENSP00000516042.1:p.Ter288Leu
ENST00000609590.2:n.1739A>T
ENST00000704900.1:c.444A>T	ENSP00000516059.1:p.Leu148Phe
ENST00000704901.1:c.*454A>T	ENSP00000516060.1:n.*454A>T
ENST00000704959.1:n.1132A>T
ENST00000704982.1:n.1577A>T
ENST00000704985.1:n.1973A>T
ENST00000704986.1:n.1973A>T
ENST00000705029.1:n.1698A>T
ENST00000705059.1:n.1522A>T
ENST00000705168.1:c.120A>T	ENSP00000516071.1:p.Leu40Phe
ENST00000705169.1:c.120A>T	ENSP00000516072.1:p.Leu40Phe
ENST00000705170.1:c.120A>T	ENSP00000516073.1:p.Leu40Phe
ENST00000705171.1:n.912A>T
ENST00000705173.1:c.*176A>T	ENSP00000516075.1:n.*176A>T
ENST00000705175.1:c.993A>T	ENSP00000516077.1:p.Leu331Phe
ENST00000705176.1:c.1053A>T	ENSP00000516078.1:p.Leu351Phe
ENST00000705177.1:c.*451A>T	ENSP00000516079.1:n.*451A>T
ENST00000705178.1:c.390A>T	ENSP00000516080.1:p.Leu130Phe
ENST00000705179.1:c.585A>T	ENSP00000516081.1:p.Leu195Phe
ENST00000705180.1:c.525A>T	ENSP00000516082.1:p.Leu175Phe
ENST00000705235.1:c.867A>T	ENSP00000516093.1:p.Leu289Phe
ENST00000705236.1:c.807A>T	ENSP00000516094.1:p.Leu269Phe
ENST00000705237.1:c.525A>T	ENSP00000516095.1:p.Leu175Phe
ENST00000705238.1:c.726A>T	ENSP00000516096.1:p.Leu242Phe
ENST00000705239.1:c.804A>T	ENSP00000516097.1:p.Leu268Phe
ENST00000705240.1:c.*476A>T	ENSP00000516098.1:n.*476A>T
ENST00000705241.1:c.803A>T	ENSP00000516099.1:p.Ter268Leu
ENST00000705242.1:c.804A>T	ENSP00000516100.1:p.Leu268Phe
ENST00000705249.1:c.807A>T	ENSP00000516101.1:p.Leu269Phe
ENST00000705250.1:c.585A>T	ENSP00000516102.1:p.Leu195Phe
ENST00000705251.1:c.*454A>T	ENSP00000516103.1:n.*454A>T
ENST00000705252.1:c.*277A>T	ENSP00000516104.1:n.*277A>T
ENST00000705253.1:c.*277A>T	ENSP00000516105.1:n.*277A>T
ENST00000705254.1:c.414A>T	ENSP00000516106.1:p.Leu138Phe
ENST00000705255.1:n.1433A>T
ENST00000705256.1:c.864A>T	ENSP00000516107.1:p.Leu288Phe
ENST00000366847.9:c.867A>T MANE Select	ENSP00000355812.3:p.Leu289Phe
ENST00000349556.4:c.807A>T	ENSP00000230248.6:p.Leu269Phe
ENST00000366847.8:c.867A>T	ENSP00000355812.3:p.Leu289Phe
ENST00000488525.1:n.53A>T
ENST00000496181.1:n.271A>T
ENST00000622353.4:c.726A>T	ENSP00000479115.1:p.Leu242Phe
NM_001278690.1:c.726A>T	NP_001265619.1:p.Leu242Phe
NM_007045.3:c.867A>T	NP_008976.1:p.Leu289Phe
NM_194429.2:c.807A>T	NP_919410.1:p.Leu269Phe
NM_007045.4:c.867A>T MANE Select	NP_008976.1:p.Leu289Phe
NM_194429.3:c.807A>T	NP_919410.1:p.Leu269Phe
NM_001278690.2:c.726A>T	NP_001265619.1:p.Leu242Phe