Canonical Allele Identifier: CA453081401

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438279A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024791A>G , CM000668.2:g.167024791A>G	GRCh38
NC_000006.11:g.167438279A>G , CM000668.1:g.167438279A>G	GRCh37
NC_000006.10:g.167358269A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.756A>G	ENSP00000230248.6:p.Glu252=
ENST00000488525.2:c.812A>G	ENSP00000516042.1:p.Asn271Ser
ENST00000609590.2:n.1688A>G
ENST00000704900.1:c.393A>G	ENSP00000516059.1:p.Glu131=
ENST00000704901.1:c.*403A>G	ENSP00000516060.1:n.*403A>G
ENST00000704959.1:n.1081A>G
ENST00000704982.1:n.1526A>G
ENST00000704985.1:n.1922A>G
ENST00000704986.1:n.1922A>G
ENST00000705029.1:n.1647A>G
ENST00000705059.1:n.1471A>G
ENST00000705168.1:c.69A>G	ENSP00000516071.1:p.Glu23=
ENST00000705169.1:c.69A>G	ENSP00000516072.1:p.Glu23=
ENST00000705170.1:c.69A>G	ENSP00000516073.1:p.Glu23=
ENST00000705171.1:n.861A>G
ENST00000705173.1:c.*125A>G	ENSP00000516075.1:n.*125A>G
ENST00000705175.1:c.942A>G	ENSP00000516077.1:p.Glu314=
ENST00000705176.1:c.1002A>G	ENSP00000516078.1:p.Glu334=
ENST00000705177.1:c.*400A>G	ENSP00000516079.1:n.*400A>G
ENST00000705178.1:c.339A>G	ENSP00000516080.1:p.Glu113=
ENST00000705179.1:c.534A>G	ENSP00000516081.1:p.Glu178=
ENST00000705180.1:c.474A>G	ENSP00000516082.1:p.Glu158=
ENST00000705235.1:c.816A>G	ENSP00000516093.1:p.Glu272=
ENST00000705236.1:c.756A>G	ENSP00000516094.1:p.Glu252=
ENST00000705237.1:c.474A>G	ENSP00000516095.1:p.Glu158=
ENST00000705238.1:c.675A>G	ENSP00000516096.1:p.Glu225=
ENST00000705239.1:c.753A>G	ENSP00000516097.1:p.Glu251=
ENST00000705240.1:c.*425A>G	ENSP00000516098.1:n.*425A>G
ENST00000705241.1:c.752A>G	ENSP00000516099.1:p.Asn251Ser
ENST00000705242.1:c.753A>G	ENSP00000516100.1:p.Glu251=
ENST00000705249.1:c.756A>G	ENSP00000516101.1:p.Glu252=
ENST00000705250.1:c.534A>G	ENSP00000516102.1:p.Glu178=
ENST00000705251.1:c.*403A>G	ENSP00000516103.1:n.*403A>G
ENST00000705252.1:c.*226A>G	ENSP00000516104.1:n.*226A>G
ENST00000705253.1:c.*226A>G	ENSP00000516105.1:n.*226A>G
ENST00000705254.1:c.363A>G	ENSP00000516106.1:p.Glu121=
ENST00000705255.1:n.1382A>G
ENST00000705256.1:c.813A>G	ENSP00000516107.1:p.Glu271=
ENST00000366847.9:c.816A>G MANE Select	ENSP00000355812.3:p.Glu272=
ENST00000349556.4:c.756A>G	ENSP00000230248.6:p.Glu252=
ENST00000366847.8:c.816A>G	ENSP00000355812.3:p.Glu272=
ENST00000488525.1:n.2A>G
ENST00000496181.1:n.220A>G
ENST00000622353.4:c.675A>G	ENSP00000479115.1:p.Glu225=
NM_001278690.1:c.675A>G	NP_001265619.1:p.Glu225=
NM_007045.3:c.816A>G	NP_008976.1:p.Glu272=
NM_194429.2:c.756A>G	NP_919410.1:p.Glu252=
NM_007045.4:c.816A>G MANE Select	NP_008976.1:p.Glu272=
NM_194429.3:c.756A>G	NP_919410.1:p.Glu252=
NM_001278690.2:c.675A>G	NP_001265619.1:p.Glu225=