Canonical Allele Identifier: CA366409937

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438332A>T (hg19) ; chr6:g.167024844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024844A>T , CM000668.2:g.167024844A>T	GRCh38
NC_000006.11:g.167438332A>T , CM000668.1:g.167438332A>T	GRCh37
NC_000006.10:g.167358322A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.809A>T	ENSP00000230248.6:p.Lys270Ile
ENST00000488525.2:c.*1A>T	ENSP00000516042.1:n.*1A>T
ENST00000609590.2:n.1741A>T
ENST00000704900.1:c.446A>T	ENSP00000516059.1:p.Lys149Ile
ENST00000704901.1:c.*456A>T	ENSP00000516060.1:n.*456A>T
ENST00000704959.1:n.1134A>T
ENST00000704982.1:n.1579A>T
ENST00000704985.1:n.1975A>T
ENST00000704986.1:n.1975A>T
ENST00000705029.1:n.1700A>T
ENST00000705059.1:n.1524A>T
ENST00000705168.1:c.122A>T	ENSP00000516071.1:p.Lys41Ile
ENST00000705169.1:c.122A>T	ENSP00000516072.1:p.Lys41Ile
ENST00000705170.1:c.122A>T	ENSP00000516073.1:p.Lys41Ile
ENST00000705171.1:n.914A>T
ENST00000705173.1:c.*178A>T	ENSP00000516075.1:n.*178A>T
ENST00000705175.1:c.995A>T	ENSP00000516077.1:p.Lys332Ile
ENST00000705176.1:c.1055A>T	ENSP00000516078.1:p.Lys352Ile
ENST00000705177.1:c.*453A>T	ENSP00000516079.1:n.*453A>T
ENST00000705178.1:c.392A>T	ENSP00000516080.1:p.Lys131Ile
ENST00000705179.1:c.587A>T	ENSP00000516081.1:p.Lys196Ile
ENST00000705180.1:c.527A>T	ENSP00000516082.1:p.Lys176Ile
ENST00000705235.1:c.869A>T	ENSP00000516093.1:p.Lys290Ile
ENST00000705236.1:c.809A>T	ENSP00000516094.1:p.Lys270Ile
ENST00000705237.1:c.527A>T	ENSP00000516095.1:p.Lys176Ile
ENST00000705238.1:c.728A>T	ENSP00000516096.1:p.Lys243Ile
ENST00000705239.1:c.806A>T	ENSP00000516097.1:p.Lys269Ile
ENST00000705240.1:c.*478A>T	ENSP00000516098.1:n.*478A>T
ENST00000705241.1:c.*1A>T	ENSP00000516099.1:n.*1A>T
ENST00000705242.1:c.806A>T	ENSP00000516100.1:p.Lys269Ile
ENST00000705249.1:c.809A>T	ENSP00000516101.1:p.Lys270Ile
ENST00000705250.1:c.587A>T	ENSP00000516102.1:p.Lys196Ile
ENST00000705251.1:c.*456A>T	ENSP00000516103.1:n.*456A>T
ENST00000705252.1:c.*279A>T	ENSP00000516104.1:n.*279A>T
ENST00000705253.1:c.*279A>T	ENSP00000516105.1:n.*279A>T
ENST00000705254.1:c.416A>T	ENSP00000516106.1:p.Lys139Ile
ENST00000705255.1:n.1435A>T
ENST00000705256.1:c.866A>T	ENSP00000516107.1:p.Lys289Ile
ENST00000366847.9:c.869A>T MANE Select	ENSP00000355812.3:p.Lys290Ile
ENST00000349556.4:c.809A>T	ENSP00000230248.6:p.Lys270Ile
ENST00000366847.8:c.869A>T	ENSP00000355812.3:p.Lys290Ile
ENST00000488525.1:n.55A>T
ENST00000496181.1:n.273A>T
ENST00000622353.4:c.728A>T	ENSP00000479115.1:p.Lys243Ile
NM_001278690.1:c.728A>T	NP_001265619.1:p.Lys243Ile
NM_007045.3:c.869A>T	NP_008976.1:p.Lys290Ile
NM_194429.2:c.809A>T	NP_919410.1:p.Lys270Ile
NM_007045.4:c.869A>T MANE Select	NP_008976.1:p.Lys290Ile
NM_194429.3:c.809A>T	NP_919410.1:p.Lys270Ile
NM_001278690.2:c.728A>T	NP_001265619.1:p.Lys243Ile