Canonical Allele Identifier: CA366409830

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438280C>G (hg19) ; chr6:g.167024792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024792C>G , CM000668.2:g.167024792C>G	GRCh38
NC_000006.11:g.167438280C>G , CM000668.1:g.167438280C>G	GRCh37
NC_000006.10:g.167358270C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.757C>G	ENSP00000230248.6:p.Pro253Ala
ENST00000488525.2:c.813C>G	ENSP00000516042.1:p.Asn271Lys
ENST00000609590.2:n.1689C>G
ENST00000704900.1:c.394C>G	ENSP00000516059.1:p.Pro132Ala
ENST00000704901.1:c.*404C>G	ENSP00000516060.1:n.*404C>G
ENST00000704959.1:n.1082C>G
ENST00000704982.1:n.1527C>G
ENST00000704985.1:n.1923C>G
ENST00000704986.1:n.1923C>G
ENST00000705029.1:n.1648C>G
ENST00000705059.1:n.1472C>G
ENST00000705168.1:c.70C>G	ENSP00000516071.1:p.Pro24Ala
ENST00000705169.1:c.70C>G	ENSP00000516072.1:p.Pro24Ala
ENST00000705170.1:c.70C>G	ENSP00000516073.1:p.Pro24Ala
ENST00000705171.1:n.862C>G
ENST00000705173.1:c.*126C>G	ENSP00000516075.1:n.*126C>G
ENST00000705175.1:c.943C>G	ENSP00000516077.1:p.Pro315Ala
ENST00000705176.1:c.1003C>G	ENSP00000516078.1:p.Pro335Ala
ENST00000705177.1:c.*401C>G	ENSP00000516079.1:n.*401C>G
ENST00000705178.1:c.340C>G	ENSP00000516080.1:p.Pro114Ala
ENST00000705179.1:c.535C>G	ENSP00000516081.1:p.Pro179Ala
ENST00000705180.1:c.475C>G	ENSP00000516082.1:p.Pro159Ala
ENST00000705235.1:c.817C>G	ENSP00000516093.1:p.Pro273Ala
ENST00000705236.1:c.757C>G	ENSP00000516094.1:p.Pro253Ala
ENST00000705237.1:c.475C>G	ENSP00000516095.1:p.Pro159Ala
ENST00000705238.1:c.676C>G	ENSP00000516096.1:p.Pro226Ala
ENST00000705239.1:c.754C>G	ENSP00000516097.1:p.Pro252Ala
ENST00000705240.1:c.*426C>G	ENSP00000516098.1:n.*426C>G
ENST00000705241.1:c.753C>G	ENSP00000516099.1:p.Asn251Lys
ENST00000705242.1:c.754C>G	ENSP00000516100.1:p.Pro252Ala
ENST00000705249.1:c.757C>G	ENSP00000516101.1:p.Pro253Ala
ENST00000705250.1:c.535C>G	ENSP00000516102.1:p.Pro179Ala
ENST00000705251.1:c.*404C>G	ENSP00000516103.1:n.*404C>G
ENST00000705252.1:c.*227C>G	ENSP00000516104.1:n.*227C>G
ENST00000705253.1:c.*227C>G	ENSP00000516105.1:n.*227C>G
ENST00000705254.1:c.364C>G	ENSP00000516106.1:p.Pro122Ala
ENST00000705255.1:n.1383C>G
ENST00000705256.1:c.814C>G	ENSP00000516107.1:p.Pro272Ala
ENST00000366847.9:c.817C>G MANE Select	ENSP00000355812.3:p.Pro273Ala
ENST00000349556.4:c.757C>G	ENSP00000230248.6:p.Pro253Ala
ENST00000366847.8:c.817C>G	ENSP00000355812.3:p.Pro273Ala
ENST00000488525.1:n.3C>G
ENST00000496181.1:n.221C>G
ENST00000622353.4:c.676C>G	ENSP00000479115.1:p.Pro226Ala
NM_001278690.1:c.676C>G	NP_001265619.1:p.Pro226Ala
NM_007045.3:c.817C>G	NP_008976.1:p.Pro273Ala
NM_194429.2:c.757C>G	NP_919410.1:p.Pro253Ala
NM_007045.4:c.817C>G MANE Select	NP_008976.1:p.Pro273Ala
NM_194429.3:c.757C>G	NP_919410.1:p.Pro253Ala
NM_001278690.2:c.676C>G	NP_001265619.1:p.Pro226Ala