Canonical Allele Identifier: CA366410025

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438375C>G (hg19) ; chr6:g.167024887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024887C>G , CM000668.2:g.167024887C>G	GRCh38
NC_000006.11:g.167438375C>G , CM000668.1:g.167438375C>G	GRCh37
NC_000006.10:g.167358365C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.852C>G	ENSP00000230248.6:p.Asp284Glu
ENST00000488525.2:c.*44C>G	ENSP00000516042.1:n.*44C>G
ENST00000609590.2:n.1784C>G
ENST00000704900.1:c.489C>G	ENSP00000516059.1:p.Asp163Glu
ENST00000704901.1:c.*499C>G	ENSP00000516060.1:n.*499C>G
ENST00000704959.1:n.1177C>G
ENST00000704982.1:n.1622C>G
ENST00000704985.1:n.2018C>G
ENST00000704986.1:n.2018C>G
ENST00000705029.1:n.1743C>G
ENST00000705059.1:n.1567C>G
ENST00000705168.1:c.165C>G	ENSP00000516071.1:p.Asp55Glu
ENST00000705169.1:c.165C>G	ENSP00000516072.1:p.Asp55Glu
ENST00000705170.1:c.165C>G	ENSP00000516073.1:p.Asp55Glu
ENST00000705171.1:n.957C>G
ENST00000705173.1:c.*221C>G	ENSP00000516075.1:n.*221C>G
ENST00000705175.1:c.1038C>G	ENSP00000516077.1:p.Asp346Glu
ENST00000705176.1:c.1098C>G	ENSP00000516078.1:p.Asp366Glu
ENST00000705177.1:c.*496C>G	ENSP00000516079.1:n.*496C>G
ENST00000705178.1:c.435C>G	ENSP00000516080.1:p.Asp145Glu
ENST00000705179.1:c.630C>G	ENSP00000516081.1:p.Asp210Glu
ENST00000705180.1:c.570C>G	ENSP00000516082.1:p.Asp190Glu
ENST00000705235.1:c.912C>G	ENSP00000516093.1:p.Asp304Glu
ENST00000705236.1:c.852C>G	ENSP00000516094.1:p.Asp284Glu
ENST00000705237.1:c.570C>G	ENSP00000516095.1:p.Asp190Glu
ENST00000705238.1:c.771C>G	ENSP00000516096.1:p.Asp257Glu
ENST00000705239.1:c.849C>G	ENSP00000516097.1:p.Asp283Glu
ENST00000705240.1:c.*521C>G	ENSP00000516098.1:n.*521C>G
ENST00000705241.1:c.*44C>G	ENSP00000516099.1:n.*44C>G
ENST00000705242.1:c.849C>G	ENSP00000516100.1:p.Asp283Glu
ENST00000705249.1:c.852C>G	ENSP00000516101.1:p.Asp284Glu
ENST00000705250.1:c.630C>G	ENSP00000516102.1:p.Asp210Glu
ENST00000705251.1:c.*499C>G	ENSP00000516103.1:n.*499C>G
ENST00000705252.1:c.*322C>G	ENSP00000516104.1:n.*322C>G
ENST00000705253.1:c.*322C>G	ENSP00000516105.1:n.*322C>G
ENST00000705254.1:c.459C>G	ENSP00000516106.1:p.Asp153Glu
ENST00000705255.1:n.1478C>G
ENST00000705256.1:c.909C>G	ENSP00000516107.1:p.Asp303Glu
ENST00000366847.9:c.912C>G MANE Select	ENSP00000355812.3:p.Asp304Glu
ENST00000349556.4:c.852C>G	ENSP00000230248.6:p.Asp284Glu
ENST00000366847.8:c.912C>G	ENSP00000355812.3:p.Asp304Glu
ENST00000488525.1:n.98C>G
ENST00000496181.1:n.316C>G
ENST00000622353.4:c.771C>G	ENSP00000479115.1:p.Asp257Glu
NM_001278690.1:c.771C>G	NP_001265619.1:p.Asp257Glu
NM_007045.3:c.912C>G	NP_008976.1:p.Asp304Glu
NM_194429.2:c.852C>G	NP_919410.1:p.Asp284Glu
NM_007045.4:c.912C>G MANE Select	NP_008976.1:p.Asp304Glu
NM_194429.3:c.852C>G	NP_919410.1:p.Asp284Glu
NM_001278690.2:c.771C>G	NP_001265619.1:p.Asp257Glu