Canonical Allele Identifier: CA453081422

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438312C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024824C>A , CM000668.2:g.167024824C>A	GRCh38
NC_000006.11:g.167438312C>A , CM000668.1:g.167438312C>A	GRCh37
NC_000006.10:g.167358302C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.789C>A	ENSP00000230248.6:p.Leu263=
ENST00000488525.2:c.845C>A	ENSP00000516042.1:p.Ser282Tyr
ENST00000609590.2:n.1721C>A
ENST00000704900.1:c.426C>A	ENSP00000516059.1:p.Leu142=
ENST00000704901.1:c.*436C>A	ENSP00000516060.1:n.*436C>A
ENST00000704959.1:n.1114C>A
ENST00000704982.1:n.1559C>A
ENST00000704985.1:n.1955C>A
ENST00000704986.1:n.1955C>A
ENST00000705029.1:n.1680C>A
ENST00000705059.1:n.1504C>A
ENST00000705168.1:c.102C>A	ENSP00000516071.1:p.Leu34=
ENST00000705169.1:c.102C>A	ENSP00000516072.1:p.Leu34=
ENST00000705170.1:c.102C>A	ENSP00000516073.1:p.Leu34=
ENST00000705171.1:n.894C>A
ENST00000705173.1:c.*158C>A	ENSP00000516075.1:n.*158C>A
ENST00000705175.1:c.975C>A	ENSP00000516077.1:p.Leu325=
ENST00000705176.1:c.1035C>A	ENSP00000516078.1:p.Leu345=
ENST00000705177.1:c.*433C>A	ENSP00000516079.1:n.*433C>A
ENST00000705178.1:c.372C>A	ENSP00000516080.1:p.Leu124=
ENST00000705179.1:c.567C>A	ENSP00000516081.1:p.Leu189=
ENST00000705180.1:c.507C>A	ENSP00000516082.1:p.Leu169=
ENST00000705235.1:c.849C>A	ENSP00000516093.1:p.Leu283=
ENST00000705236.1:c.789C>A	ENSP00000516094.1:p.Leu263=
ENST00000705237.1:c.507C>A	ENSP00000516095.1:p.Leu169=
ENST00000705238.1:c.708C>A	ENSP00000516096.1:p.Leu236=
ENST00000705239.1:c.786C>A	ENSP00000516097.1:p.Leu262=
ENST00000705240.1:c.*458C>A	ENSP00000516098.1:n.*458C>A
ENST00000705241.1:c.785C>A	ENSP00000516099.1:p.Ser262Tyr
ENST00000705242.1:c.786C>A	ENSP00000516100.1:p.Leu262=
ENST00000705249.1:c.789C>A	ENSP00000516101.1:p.Leu263=
ENST00000705250.1:c.567C>A	ENSP00000516102.1:p.Leu189=
ENST00000705251.1:c.*436C>A	ENSP00000516103.1:n.*436C>A
ENST00000705252.1:c.*259C>A	ENSP00000516104.1:n.*259C>A
ENST00000705253.1:c.*259C>A	ENSP00000516105.1:n.*259C>A
ENST00000705254.1:c.396C>A	ENSP00000516106.1:p.Leu132=
ENST00000705255.1:n.1415C>A
ENST00000705256.1:c.846C>A	ENSP00000516107.1:p.Leu282=
ENST00000366847.9:c.849C>A MANE Select	ENSP00000355812.3:p.Leu283=
ENST00000349556.4:c.789C>A	ENSP00000230248.6:p.Leu263=
ENST00000366847.8:c.849C>A	ENSP00000355812.3:p.Leu283=
ENST00000488525.1:n.35C>A
ENST00000496181.1:n.253C>A
ENST00000622353.4:c.708C>A	ENSP00000479115.1:p.Leu236=
NM_001278690.1:c.708C>A	NP_001265619.1:p.Leu236=
NM_007045.3:c.849C>A	NP_008976.1:p.Leu283=
NM_194429.2:c.789C>A	NP_919410.1:p.Leu263=
NM_007045.4:c.849C>A MANE Select	NP_008976.1:p.Leu283=
NM_194429.3:c.789C>A	NP_919410.1:p.Leu263=
NM_001278690.2:c.708C>A	NP_001265619.1:p.Leu236=