Canonical Allele Identifier: CA366409878

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438302T>C (hg19) ; chr6:g.167024814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024814T>C , CM000668.2:g.167024814T>C	GRCh38
NC_000006.11:g.167438302T>C , CM000668.1:g.167438302T>C	GRCh37
NC_000006.10:g.167358292T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.779T>C	ENSP00000230248.6:p.Leu260Pro
ENST00000488525.2:c.835T>C	ENSP00000516042.1:p.Trp279Arg
ENST00000609590.2:n.1711T>C
ENST00000704900.1:c.416T>C	ENSP00000516059.1:p.Leu139Pro
ENST00000704901.1:c.*426T>C	ENSP00000516060.1:n.*426T>C
ENST00000704959.1:n.1104T>C
ENST00000704982.1:n.1549T>C
ENST00000704985.1:n.1945T>C
ENST00000704986.1:n.1945T>C
ENST00000705029.1:n.1670T>C
ENST00000705059.1:n.1494T>C
ENST00000705168.1:c.92T>C	ENSP00000516071.1:p.Leu31Pro
ENST00000705169.1:c.92T>C	ENSP00000516072.1:p.Leu31Pro
ENST00000705170.1:c.92T>C	ENSP00000516073.1:p.Leu31Pro
ENST00000705171.1:n.884T>C
ENST00000705173.1:c.*148T>C	ENSP00000516075.1:n.*148T>C
ENST00000705175.1:c.965T>C	ENSP00000516077.1:p.Leu322Pro
ENST00000705176.1:c.1025T>C	ENSP00000516078.1:p.Leu342Pro
ENST00000705177.1:c.*423T>C	ENSP00000516079.1:n.*423T>C
ENST00000705178.1:c.362T>C	ENSP00000516080.1:p.Leu121Pro
ENST00000705179.1:c.557T>C	ENSP00000516081.1:p.Leu186Pro
ENST00000705180.1:c.497T>C	ENSP00000516082.1:p.Leu166Pro
ENST00000705235.1:c.839T>C	ENSP00000516093.1:p.Leu280Pro
ENST00000705236.1:c.779T>C	ENSP00000516094.1:p.Leu260Pro
ENST00000705237.1:c.497T>C	ENSP00000516095.1:p.Leu166Pro
ENST00000705238.1:c.698T>C	ENSP00000516096.1:p.Leu233Pro
ENST00000705239.1:c.776T>C	ENSP00000516097.1:p.Leu259Pro
ENST00000705240.1:c.*448T>C	ENSP00000516098.1:n.*448T>C
ENST00000705241.1:c.775T>C	ENSP00000516099.1:p.Trp259Arg
ENST00000705242.1:c.776T>C	ENSP00000516100.1:p.Leu259Pro
ENST00000705249.1:c.779T>C	ENSP00000516101.1:p.Leu260Pro
ENST00000705250.1:c.557T>C	ENSP00000516102.1:p.Leu186Pro
ENST00000705251.1:c.*426T>C	ENSP00000516103.1:n.*426T>C
ENST00000705252.1:c.*249T>C	ENSP00000516104.1:n.*249T>C
ENST00000705253.1:c.*249T>C	ENSP00000516105.1:n.*249T>C
ENST00000705254.1:c.386T>C	ENSP00000516106.1:p.Leu129Pro
ENST00000705255.1:n.1405T>C
ENST00000705256.1:c.836T>C	ENSP00000516107.1:p.Leu279Pro
ENST00000366847.9:c.839T>C MANE Select	ENSP00000355812.3:p.Leu280Pro
ENST00000349556.4:c.779T>C	ENSP00000230248.6:p.Leu260Pro
ENST00000366847.8:c.839T>C	ENSP00000355812.3:p.Leu280Pro
ENST00000488525.1:n.25T>C
ENST00000496181.1:n.243T>C
ENST00000622353.4:c.698T>C	ENSP00000479115.1:p.Leu233Pro
NM_001278690.1:c.698T>C	NP_001265619.1:p.Leu233Pro
NM_007045.3:c.839T>C	NP_008976.1:p.Leu280Pro
NM_194429.2:c.779T>C	NP_919410.1:p.Leu260Pro
NM_007045.4:c.839T>C MANE Select	NP_008976.1:p.Leu280Pro
NM_194429.3:c.779T>C	NP_919410.1:p.Leu260Pro
NM_001278690.2:c.698T>C	NP_001265619.1:p.Leu233Pro