Canonical Allele Identifier: CA366409893

Gene: CEP43

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.787C>A	ENSP00000230248.6:p.Leu263Ile
ENST00000488525.2:c.843C>A	ENSP00000516042.1:p.Arg281=
ENST00000609590.2:n.1719C>A
ENST00000704900.1:c.424C>A	ENSP00000516059.1:p.Leu142Ile
ENST00000704901.1:c.*434C>A	ENSP00000516060.1:n.*434C>A
ENST00000704959.1:n.1112C>A
ENST00000704982.1:n.1557C>A
ENST00000704985.1:n.1953C>A
ENST00000704986.1:n.1953C>A
ENST00000705029.1:n.1678C>A
ENST00000705059.1:n.1502C>A
ENST00000705168.1:c.100C>A	ENSP00000516071.1:p.Leu34Ile
ENST00000705169.1:c.100C>A	ENSP00000516072.1:p.Leu34Ile
ENST00000705170.1:c.100C>A	ENSP00000516073.1:p.Leu34Ile
ENST00000705171.1:n.892C>A
ENST00000705173.1:c.*156C>A	ENSP00000516075.1:n.*156C>A
ENST00000705175.1:c.973C>A	ENSP00000516077.1:p.Leu325Ile
ENST00000705176.1:c.1033C>A	ENSP00000516078.1:p.Leu345Ile
ENST00000705177.1:c.*431C>A	ENSP00000516079.1:n.*431C>A
ENST00000705178.1:c.370C>A	ENSP00000516080.1:p.Leu124Ile
ENST00000705179.1:c.565C>A	ENSP00000516081.1:p.Leu189Ile
ENST00000705180.1:c.505C>A	ENSP00000516082.1:p.Leu169Ile
ENST00000705235.1:c.847C>A	ENSP00000516093.1:p.Leu283Ile
ENST00000705236.1:c.787C>A	ENSP00000516094.1:p.Leu263Ile
ENST00000705237.1:c.505C>A	ENSP00000516095.1:p.Leu169Ile
ENST00000705238.1:c.706C>A	ENSP00000516096.1:p.Leu236Ile
ENST00000705239.1:c.784C>A	ENSP00000516097.1:p.Leu262Ile
ENST00000705240.1:c.*456C>A	ENSP00000516098.1:n.*456C>A
ENST00000705241.1:c.783C>A	ENSP00000516099.1:p.Arg261=
ENST00000705242.1:c.784C>A	ENSP00000516100.1:p.Leu262Ile
ENST00000705249.1:c.787C>A	ENSP00000516101.1:p.Leu263Ile
ENST00000705250.1:c.565C>A	ENSP00000516102.1:p.Leu189Ile
ENST00000705251.1:c.*434C>A	ENSP00000516103.1:n.*434C>A
ENST00000705252.1:c.*257C>A	ENSP00000516104.1:n.*257C>A
ENST00000705253.1:c.*257C>A	ENSP00000516105.1:n.*257C>A
ENST00000705254.1:c.394C>A	ENSP00000516106.1:p.Leu132Ile
ENST00000705255.1:n.1413C>A
ENST00000705256.1:c.844C>A	ENSP00000516107.1:p.Leu282Ile
ENST00000366847.9:c.847C>A MANE Select	ENSP00000355812.3:p.Leu283Ile
ENST00000349556.4:c.787C>A	ENSP00000230248.6:p.Leu263Ile
ENST00000366847.8:c.847C>A	ENSP00000355812.3:p.Leu283Ile
ENST00000488525.1:n.33C>A
ENST00000496181.1:n.251C>A
ENST00000622353.4:c.706C>A	ENSP00000479115.1:p.Leu236Ile
NM_001278690.1:c.706C>A	NP_001265619.1:p.Leu236Ile
NM_007045.3:c.847C>A	NP_008976.1:p.Leu283Ile
NM_194429.2:c.787C>A	NP_919410.1:p.Leu263Ile
NM_007045.4:c.847C>A MANE Select	NP_008976.1:p.Leu283Ile
NM_194429.3:c.787C>A	NP_919410.1:p.Leu263Ile
NM_001278690.2:c.706C>A	NP_001265619.1:p.Leu236Ile