Canonical Allele Identifier: CA366409829

Gene: CEP43

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.757C>A	ENSP00000230248.6:p.Pro253Thr
ENST00000488525.2:c.813C>A	ENSP00000516042.1:p.Asn271Lys
ENST00000609590.2:n.1689C>A
ENST00000704900.1:c.394C>A	ENSP00000516059.1:p.Pro132Thr
ENST00000704901.1:c.*404C>A	ENSP00000516060.1:n.*404C>A
ENST00000704959.1:n.1082C>A
ENST00000704982.1:n.1527C>A
ENST00000704985.1:n.1923C>A
ENST00000704986.1:n.1923C>A
ENST00000705029.1:n.1648C>A
ENST00000705059.1:n.1472C>A
ENST00000705168.1:c.70C>A	ENSP00000516071.1:p.Pro24Thr
ENST00000705169.1:c.70C>A	ENSP00000516072.1:p.Pro24Thr
ENST00000705170.1:c.70C>A	ENSP00000516073.1:p.Pro24Thr
ENST00000705171.1:n.862C>A
ENST00000705173.1:c.*126C>A	ENSP00000516075.1:n.*126C>A
ENST00000705175.1:c.943C>A	ENSP00000516077.1:p.Pro315Thr
ENST00000705176.1:c.1003C>A	ENSP00000516078.1:p.Pro335Thr
ENST00000705177.1:c.*401C>A	ENSP00000516079.1:n.*401C>A
ENST00000705178.1:c.340C>A	ENSP00000516080.1:p.Pro114Thr
ENST00000705179.1:c.535C>A	ENSP00000516081.1:p.Pro179Thr
ENST00000705180.1:c.475C>A	ENSP00000516082.1:p.Pro159Thr
ENST00000705235.1:c.817C>A	ENSP00000516093.1:p.Pro273Thr
ENST00000705236.1:c.757C>A	ENSP00000516094.1:p.Pro253Thr
ENST00000705237.1:c.475C>A	ENSP00000516095.1:p.Pro159Thr
ENST00000705238.1:c.676C>A	ENSP00000516096.1:p.Pro226Thr
ENST00000705239.1:c.754C>A	ENSP00000516097.1:p.Pro252Thr
ENST00000705240.1:c.*426C>A	ENSP00000516098.1:n.*426C>A
ENST00000705241.1:c.753C>A	ENSP00000516099.1:p.Asn251Lys
ENST00000705242.1:c.754C>A	ENSP00000516100.1:p.Pro252Thr
ENST00000705249.1:c.757C>A	ENSP00000516101.1:p.Pro253Thr
ENST00000705250.1:c.535C>A	ENSP00000516102.1:p.Pro179Thr
ENST00000705251.1:c.*404C>A	ENSP00000516103.1:n.*404C>A
ENST00000705252.1:c.*227C>A	ENSP00000516104.1:n.*227C>A
ENST00000705253.1:c.*227C>A	ENSP00000516105.1:n.*227C>A
ENST00000705254.1:c.364C>A	ENSP00000516106.1:p.Pro122Thr
ENST00000705255.1:n.1383C>A
ENST00000705256.1:c.814C>A	ENSP00000516107.1:p.Pro272Thr
ENST00000366847.9:c.817C>A MANE Select	ENSP00000355812.3:p.Pro273Thr
ENST00000349556.4:c.757C>A	ENSP00000230248.6:p.Pro253Thr
ENST00000366847.8:c.817C>A	ENSP00000355812.3:p.Pro273Thr
ENST00000488525.1:n.3C>A
ENST00000496181.1:n.221C>A
ENST00000622353.4:c.676C>A	ENSP00000479115.1:p.Pro226Thr
NM_001278690.1:c.676C>A	NP_001265619.1:p.Pro226Thr
NM_007045.3:c.817C>A	NP_008976.1:p.Pro273Thr
NM_194429.2:c.757C>A	NP_919410.1:p.Pro253Thr
NM_007045.4:c.817C>A MANE Select	NP_008976.1:p.Pro273Thr
NM_194429.3:c.757C>A	NP_919410.1:p.Pro253Thr
NM_001278690.2:c.676C>A	NP_001265619.1:p.Pro226Thr