Canonical Allele Identifier: CA366410002

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438365C>T (hg19) ; chr6:g.167024877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024877C>T , CM000668.2:g.167024877C>T	GRCh38
NC_000006.11:g.167438365C>T , CM000668.1:g.167438365C>T	GRCh37
NC_000006.10:g.167358355C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.842C>T	ENSP00000230248.6:p.Ser281Phe
ENST00000488525.2:c.*34C>T	ENSP00000516042.1:n.*34C>T
ENST00000609590.2:n.1774C>T
ENST00000704900.1:c.479C>T	ENSP00000516059.1:p.Ser160Phe
ENST00000704901.1:c.*489C>T	ENSP00000516060.1:n.*489C>T
ENST00000704959.1:n.1167C>T
ENST00000704982.1:n.1612C>T
ENST00000704985.1:n.2008C>T
ENST00000704986.1:n.2008C>T
ENST00000705029.1:n.1733C>T
ENST00000705059.1:n.1557C>T
ENST00000705168.1:c.155C>T	ENSP00000516071.1:p.Ser52Phe
ENST00000705169.1:c.155C>T	ENSP00000516072.1:p.Ser52Phe
ENST00000705170.1:c.155C>T	ENSP00000516073.1:p.Ser52Phe
ENST00000705171.1:n.947C>T
ENST00000705173.1:c.*211C>T	ENSP00000516075.1:n.*211C>T
ENST00000705175.1:c.1028C>T	ENSP00000516077.1:p.Ser343Phe
ENST00000705176.1:c.1088C>T	ENSP00000516078.1:p.Ser363Phe
ENST00000705177.1:c.*486C>T	ENSP00000516079.1:n.*486C>T
ENST00000705178.1:c.425C>T	ENSP00000516080.1:p.Ser142Phe
ENST00000705179.1:c.620C>T	ENSP00000516081.1:p.Ser207Phe
ENST00000705180.1:c.560C>T	ENSP00000516082.1:p.Ser187Phe
ENST00000705235.1:c.902C>T	ENSP00000516093.1:p.Ser301Phe
ENST00000705236.1:c.842C>T	ENSP00000516094.1:p.Ser281Phe
ENST00000705237.1:c.560C>T	ENSP00000516095.1:p.Ser187Phe
ENST00000705238.1:c.761C>T	ENSP00000516096.1:p.Ser254Phe
ENST00000705239.1:c.839C>T	ENSP00000516097.1:p.Ser280Phe
ENST00000705240.1:c.*511C>T	ENSP00000516098.1:n.*511C>T
ENST00000705241.1:c.*34C>T	ENSP00000516099.1:n.*34C>T
ENST00000705242.1:c.839C>T	ENSP00000516100.1:p.Ser280Phe
ENST00000705249.1:c.842C>T	ENSP00000516101.1:p.Ser281Phe
ENST00000705250.1:c.620C>T	ENSP00000516102.1:p.Ser207Phe
ENST00000705251.1:c.*489C>T	ENSP00000516103.1:n.*489C>T
ENST00000705252.1:c.*312C>T	ENSP00000516104.1:n.*312C>T
ENST00000705253.1:c.*312C>T	ENSP00000516105.1:n.*312C>T
ENST00000705254.1:c.449C>T	ENSP00000516106.1:p.Ser150Phe
ENST00000705255.1:n.1468C>T
ENST00000705256.1:c.899C>T	ENSP00000516107.1:p.Ser300Phe
ENST00000366847.9:c.902C>T MANE Select	ENSP00000355812.3:p.Ser301Phe
ENST00000349556.4:c.842C>T	ENSP00000230248.6:p.Ser281Phe
ENST00000366847.8:c.902C>T	ENSP00000355812.3:p.Ser301Phe
ENST00000488525.1:n.88C>T
ENST00000496181.1:n.306C>T
ENST00000622353.4:c.761C>T	ENSP00000479115.1:p.Ser254Phe
NM_001278690.1:c.761C>T	NP_001265619.1:p.Ser254Phe
NM_007045.3:c.902C>T	NP_008976.1:p.Ser301Phe
NM_194429.2:c.842C>T	NP_919410.1:p.Ser281Phe
NM_007045.4:c.902C>T MANE Select	NP_008976.1:p.Ser301Phe
NM_194429.3:c.842C>T	NP_919410.1:p.Ser281Phe
NM_001278690.2:c.761C>T	NP_001265619.1:p.Ser254Phe