Canonical Allele Identifier: CA453081446

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438339A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024851A>T , CM000668.2:g.167024851A>T	GRCh38
NC_000006.11:g.167438339A>T , CM000668.1:g.167438339A>T	GRCh37
NC_000006.10:g.167358329A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.816A>T	ENSP00000230248.6:p.Gly272=
ENST00000488525.2:c.*8A>T	ENSP00000516042.1:n.*8A>T
ENST00000609590.2:n.1748A>T
ENST00000704900.1:c.453A>T	ENSP00000516059.1:p.Gly151=
ENST00000704901.1:c.*463A>T	ENSP00000516060.1:n.*463A>T
ENST00000704959.1:n.1141A>T
ENST00000704982.1:n.1586A>T
ENST00000704985.1:n.1982A>T
ENST00000704986.1:n.1982A>T
ENST00000705029.1:n.1707A>T
ENST00000705059.1:n.1531A>T
ENST00000705168.1:c.129A>T	ENSP00000516071.1:p.Gly43=
ENST00000705169.1:c.129A>T	ENSP00000516072.1:p.Gly43=
ENST00000705170.1:c.129A>T	ENSP00000516073.1:p.Gly43=
ENST00000705171.1:n.921A>T
ENST00000705173.1:c.*185A>T	ENSP00000516075.1:n.*185A>T
ENST00000705175.1:c.1002A>T	ENSP00000516077.1:p.Gly334=
ENST00000705176.1:c.1062A>T	ENSP00000516078.1:p.Gly354=
ENST00000705177.1:c.*460A>T	ENSP00000516079.1:n.*460A>T
ENST00000705178.1:c.399A>T	ENSP00000516080.1:p.Gly133=
ENST00000705179.1:c.594A>T	ENSP00000516081.1:p.Gly198=
ENST00000705180.1:c.534A>T	ENSP00000516082.1:p.Gly178=
ENST00000705235.1:c.876A>T	ENSP00000516093.1:p.Gly292=
ENST00000705236.1:c.816A>T	ENSP00000516094.1:p.Gly272=
ENST00000705237.1:c.534A>T	ENSP00000516095.1:p.Gly178=
ENST00000705238.1:c.735A>T	ENSP00000516096.1:p.Gly245=
ENST00000705239.1:c.813A>T	ENSP00000516097.1:p.Gly271=
ENST00000705240.1:c.*485A>T	ENSP00000516098.1:n.*485A>T
ENST00000705241.1:c.*8A>T	ENSP00000516099.1:n.*8A>T
ENST00000705242.1:c.813A>T	ENSP00000516100.1:p.Gly271=
ENST00000705249.1:c.816A>T	ENSP00000516101.1:p.Gly272=
ENST00000705250.1:c.594A>T	ENSP00000516102.1:p.Gly198=
ENST00000705251.1:c.*463A>T	ENSP00000516103.1:n.*463A>T
ENST00000705252.1:c.*286A>T	ENSP00000516104.1:n.*286A>T
ENST00000705253.1:c.*286A>T	ENSP00000516105.1:n.*286A>T
ENST00000705254.1:c.423A>T	ENSP00000516106.1:p.Gly141=
ENST00000705255.1:n.1442A>T
ENST00000705256.1:c.873A>T	ENSP00000516107.1:p.Gly291=
ENST00000366847.9:c.876A>T MANE Select	ENSP00000355812.3:p.Gly292=
ENST00000349556.4:c.816A>T	ENSP00000230248.6:p.Gly272=
ENST00000366847.8:c.876A>T	ENSP00000355812.3:p.Gly292=
ENST00000488525.1:n.62A>T
ENST00000496181.1:n.280A>T
ENST00000622353.4:c.735A>T	ENSP00000479115.1:p.Gly245=
NM_001278690.1:c.735A>T	NP_001265619.1:p.Gly245=
NM_007045.3:c.876A>T	NP_008976.1:p.Gly292=
NM_194429.2:c.816A>T	NP_919410.1:p.Gly272=
NM_007045.4:c.876A>T MANE Select	NP_008976.1:p.Gly292=
NM_194429.3:c.816A>T	NP_919410.1:p.Gly272=
NM_001278690.2:c.735A>T	NP_001265619.1:p.Gly245=