Canonical Allele Identifier: CA453081410

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438297A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024809A>T , CM000668.2:g.167024809A>T	GRCh38
NC_000006.11:g.167438297A>T , CM000668.1:g.167438297A>T	GRCh37
NC_000006.10:g.167358287A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.774A>T	ENSP00000230248.6:p.Gly258=
ENST00000488525.2:c.830A>T	ENSP00000516042.1:p.Glu277Val
ENST00000609590.2:n.1706A>T
ENST00000704900.1:c.411A>T	ENSP00000516059.1:p.Gly137=
ENST00000704901.1:c.*421A>T	ENSP00000516060.1:n.*421A>T
ENST00000704959.1:n.1099A>T
ENST00000704982.1:n.1544A>T
ENST00000704985.1:n.1940A>T
ENST00000704986.1:n.1940A>T
ENST00000705029.1:n.1665A>T
ENST00000705059.1:n.1489A>T
ENST00000705168.1:c.87A>T	ENSP00000516071.1:p.Gly29=
ENST00000705169.1:c.87A>T	ENSP00000516072.1:p.Gly29=
ENST00000705170.1:c.87A>T	ENSP00000516073.1:p.Gly29=
ENST00000705171.1:n.879A>T
ENST00000705173.1:c.*143A>T	ENSP00000516075.1:n.*143A>T
ENST00000705175.1:c.960A>T	ENSP00000516077.1:p.Gly320=
ENST00000705176.1:c.1020A>T	ENSP00000516078.1:p.Gly340=
ENST00000705177.1:c.*418A>T	ENSP00000516079.1:n.*418A>T
ENST00000705178.1:c.357A>T	ENSP00000516080.1:p.Gly119=
ENST00000705179.1:c.552A>T	ENSP00000516081.1:p.Gly184=
ENST00000705180.1:c.492A>T	ENSP00000516082.1:p.Gly164=
ENST00000705235.1:c.834A>T	ENSP00000516093.1:p.Gly278=
ENST00000705236.1:c.774A>T	ENSP00000516094.1:p.Gly258=
ENST00000705237.1:c.492A>T	ENSP00000516095.1:p.Gly164=
ENST00000705238.1:c.693A>T	ENSP00000516096.1:p.Gly231=
ENST00000705239.1:c.771A>T	ENSP00000516097.1:p.Gly257=
ENST00000705240.1:c.*443A>T	ENSP00000516098.1:n.*443A>T
ENST00000705241.1:c.770A>T	ENSP00000516099.1:p.Glu257Val
ENST00000705242.1:c.771A>T	ENSP00000516100.1:p.Gly257=
ENST00000705249.1:c.774A>T	ENSP00000516101.1:p.Gly258=
ENST00000705250.1:c.552A>T	ENSP00000516102.1:p.Gly184=
ENST00000705251.1:c.*421A>T	ENSP00000516103.1:n.*421A>T
ENST00000705252.1:c.*244A>T	ENSP00000516104.1:n.*244A>T
ENST00000705253.1:c.*244A>T	ENSP00000516105.1:n.*244A>T
ENST00000705254.1:c.381A>T	ENSP00000516106.1:p.Gly127=
ENST00000705255.1:n.1400A>T
ENST00000705256.1:c.831A>T	ENSP00000516107.1:p.Gly277=
ENST00000366847.9:c.834A>T MANE Select	ENSP00000355812.3:p.Gly278=
ENST00000349556.4:c.774A>T	ENSP00000230248.6:p.Gly258=
ENST00000366847.8:c.834A>T	ENSP00000355812.3:p.Gly278=
ENST00000488525.1:n.20A>T
ENST00000496181.1:n.238A>T
ENST00000622353.4:c.693A>T	ENSP00000479115.1:p.Gly231=
NM_001278690.1:c.693A>T	NP_001265619.1:p.Gly231=
NM_007045.3:c.834A>T	NP_008976.1:p.Gly278=
NM_194429.2:c.774A>T	NP_919410.1:p.Gly258=
NM_007045.4:c.834A>T MANE Select	NP_008976.1:p.Gly278=
NM_194429.3:c.774A>T	NP_919410.1:p.Gly258=
NM_001278690.2:c.693A>T	NP_001265619.1:p.Gly231=