Canonical Allele Identifier: CA366409959

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438343A>T (hg19) ; chr6:g.167024855A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024855A>T , CM000668.2:g.167024855A>T	GRCh38
NC_000006.11:g.167438343A>T , CM000668.1:g.167438343A>T	GRCh37
NC_000006.10:g.167358333A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.820A>T	ENSP00000230248.6:p.Ser274Cys
ENST00000488525.2:c.*12A>T	ENSP00000516042.1:n.*12A>T
ENST00000609590.2:n.1752A>T
ENST00000704900.1:c.457A>T	ENSP00000516059.1:p.Ser153Cys
ENST00000704901.1:c.*467A>T	ENSP00000516060.1:n.*467A>T
ENST00000704959.1:n.1145A>T
ENST00000704982.1:n.1590A>T
ENST00000704985.1:n.1986A>T
ENST00000704986.1:n.1986A>T
ENST00000705029.1:n.1711A>T
ENST00000705059.1:n.1535A>T
ENST00000705168.1:c.133A>T	ENSP00000516071.1:p.Ser45Cys
ENST00000705169.1:c.133A>T	ENSP00000516072.1:p.Ser45Cys
ENST00000705170.1:c.133A>T	ENSP00000516073.1:p.Ser45Cys
ENST00000705171.1:n.925A>T
ENST00000705173.1:c.*189A>T	ENSP00000516075.1:n.*189A>T
ENST00000705175.1:c.1006A>T	ENSP00000516077.1:p.Ser336Cys
ENST00000705176.1:c.1066A>T	ENSP00000516078.1:p.Ser356Cys
ENST00000705177.1:c.*464A>T	ENSP00000516079.1:n.*464A>T
ENST00000705178.1:c.403A>T	ENSP00000516080.1:p.Ser135Cys
ENST00000705179.1:c.598A>T	ENSP00000516081.1:p.Ser200Cys
ENST00000705180.1:c.538A>T	ENSP00000516082.1:p.Ser180Cys
ENST00000705235.1:c.880A>T	ENSP00000516093.1:p.Ser294Cys
ENST00000705236.1:c.820A>T	ENSP00000516094.1:p.Ser274Cys
ENST00000705237.1:c.538A>T	ENSP00000516095.1:p.Ser180Cys
ENST00000705238.1:c.739A>T	ENSP00000516096.1:p.Ser247Cys
ENST00000705239.1:c.817A>T	ENSP00000516097.1:p.Ser273Cys
ENST00000705240.1:c.*489A>T	ENSP00000516098.1:n.*489A>T
ENST00000705241.1:c.*12A>T	ENSP00000516099.1:n.*12A>T
ENST00000705242.1:c.817A>T	ENSP00000516100.1:p.Ser273Cys
ENST00000705249.1:c.820A>T	ENSP00000516101.1:p.Ser274Cys
ENST00000705250.1:c.598A>T	ENSP00000516102.1:p.Ser200Cys
ENST00000705251.1:c.*467A>T	ENSP00000516103.1:n.*467A>T
ENST00000705252.1:c.*290A>T	ENSP00000516104.1:n.*290A>T
ENST00000705253.1:c.*290A>T	ENSP00000516105.1:n.*290A>T
ENST00000705254.1:c.427A>T	ENSP00000516106.1:p.Ser143Cys
ENST00000705255.1:n.1446A>T
ENST00000705256.1:c.877A>T	ENSP00000516107.1:p.Ser293Cys
ENST00000366847.9:c.880A>T MANE Select	ENSP00000355812.3:p.Ser294Cys
ENST00000349556.4:c.820A>T	ENSP00000230248.6:p.Ser274Cys
ENST00000366847.8:c.880A>T	ENSP00000355812.3:p.Ser294Cys
ENST00000488525.1:n.66A>T
ENST00000496181.1:n.284A>T
ENST00000622353.4:c.739A>T	ENSP00000479115.1:p.Ser247Cys
NM_001278690.1:c.739A>T	NP_001265619.1:p.Ser247Cys
NM_007045.3:c.880A>T	NP_008976.1:p.Ser294Cys
NM_194429.2:c.820A>T	NP_919410.1:p.Ser274Cys
NM_007045.4:c.880A>T MANE Select	NP_008976.1:p.Ser294Cys
NM_194429.3:c.820A>T	NP_919410.1:p.Ser274Cys
NM_001278690.2:c.739A>T	NP_001265619.1:p.Ser247Cys