Canonical Allele Identifier: CA366409892

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438310C>T (hg19) ; chr6:g.167024822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024822C>T , CM000668.2:g.167024822C>T	GRCh38
NC_000006.11:g.167438310C>T , CM000668.1:g.167438310C>T	GRCh37
NC_000006.10:g.167358300C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.787C>T	ENSP00000230248.6:p.Leu263Phe
ENST00000488525.2:c.843C>T	ENSP00000516042.1:p.Arg281=
ENST00000609590.2:n.1719C>T
ENST00000704900.1:c.424C>T	ENSP00000516059.1:p.Leu142Phe
ENST00000704901.1:c.*434C>T	ENSP00000516060.1:n.*434C>T
ENST00000704959.1:n.1112C>T
ENST00000704982.1:n.1557C>T
ENST00000704985.1:n.1953C>T
ENST00000704986.1:n.1953C>T
ENST00000705029.1:n.1678C>T
ENST00000705059.1:n.1502C>T
ENST00000705168.1:c.100C>T	ENSP00000516071.1:p.Leu34Phe
ENST00000705169.1:c.100C>T	ENSP00000516072.1:p.Leu34Phe
ENST00000705170.1:c.100C>T	ENSP00000516073.1:p.Leu34Phe
ENST00000705171.1:n.892C>T
ENST00000705173.1:c.*156C>T	ENSP00000516075.1:n.*156C>T
ENST00000705175.1:c.973C>T	ENSP00000516077.1:p.Leu325Phe
ENST00000705176.1:c.1033C>T	ENSP00000516078.1:p.Leu345Phe
ENST00000705177.1:c.*431C>T	ENSP00000516079.1:n.*431C>T
ENST00000705178.1:c.370C>T	ENSP00000516080.1:p.Leu124Phe
ENST00000705179.1:c.565C>T	ENSP00000516081.1:p.Leu189Phe
ENST00000705180.1:c.505C>T	ENSP00000516082.1:p.Leu169Phe
ENST00000705235.1:c.847C>T	ENSP00000516093.1:p.Leu283Phe
ENST00000705236.1:c.787C>T	ENSP00000516094.1:p.Leu263Phe
ENST00000705237.1:c.505C>T	ENSP00000516095.1:p.Leu169Phe
ENST00000705238.1:c.706C>T	ENSP00000516096.1:p.Leu236Phe
ENST00000705239.1:c.784C>T	ENSP00000516097.1:p.Leu262Phe
ENST00000705240.1:c.*456C>T	ENSP00000516098.1:n.*456C>T
ENST00000705241.1:c.783C>T	ENSP00000516099.1:p.Arg261=
ENST00000705242.1:c.784C>T	ENSP00000516100.1:p.Leu262Phe
ENST00000705249.1:c.787C>T	ENSP00000516101.1:p.Leu263Phe
ENST00000705250.1:c.565C>T	ENSP00000516102.1:p.Leu189Phe
ENST00000705251.1:c.*434C>T	ENSP00000516103.1:n.*434C>T
ENST00000705252.1:c.*257C>T	ENSP00000516104.1:n.*257C>T
ENST00000705253.1:c.*257C>T	ENSP00000516105.1:n.*257C>T
ENST00000705254.1:c.394C>T	ENSP00000516106.1:p.Leu132Phe
ENST00000705255.1:n.1413C>T
ENST00000705256.1:c.844C>T	ENSP00000516107.1:p.Leu282Phe
ENST00000366847.9:c.847C>T MANE Select	ENSP00000355812.3:p.Leu283Phe
ENST00000349556.4:c.787C>T	ENSP00000230248.6:p.Leu263Phe
ENST00000366847.8:c.847C>T	ENSP00000355812.3:p.Leu283Phe
ENST00000488525.1:n.33C>T
ENST00000496181.1:n.251C>T
ENST00000622353.4:c.706C>T	ENSP00000479115.1:p.Leu236Phe
NM_001278690.1:c.706C>T	NP_001265619.1:p.Leu236Phe
NM_007045.3:c.847C>T	NP_008976.1:p.Leu283Phe
NM_194429.2:c.787C>T	NP_919410.1:p.Leu263Phe
NM_007045.4:c.847C>T MANE Select	NP_008976.1:p.Leu283Phe
NM_194429.3:c.787C>T	NP_919410.1:p.Leu263Phe
NM_001278690.2:c.706C>T	NP_001265619.1:p.Leu236Phe