Canonical Allele Identifier: CA366409957

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438341T>C (hg19) ; chr6:g.167024853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024853T>C , CM000668.2:g.167024853T>C	GRCh38
NC_000006.11:g.167438341T>C , CM000668.1:g.167438341T>C	GRCh37
NC_000006.10:g.167358331T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.818T>C	ENSP00000230248.6:p.Leu273Pro
ENST00000488525.2:c.*10T>C	ENSP00000516042.1:n.*10T>C
ENST00000609590.2:n.1750T>C
ENST00000704900.1:c.455T>C	ENSP00000516059.1:p.Leu152Pro
ENST00000704901.1:c.*465T>C	ENSP00000516060.1:n.*465T>C
ENST00000704959.1:n.1143T>C
ENST00000704982.1:n.1588T>C
ENST00000704985.1:n.1984T>C
ENST00000704986.1:n.1984T>C
ENST00000705029.1:n.1709T>C
ENST00000705059.1:n.1533T>C
ENST00000705168.1:c.131T>C	ENSP00000516071.1:p.Leu44Pro
ENST00000705169.1:c.131T>C	ENSP00000516072.1:p.Leu44Pro
ENST00000705170.1:c.131T>C	ENSP00000516073.1:p.Leu44Pro
ENST00000705171.1:n.923T>C
ENST00000705173.1:c.*187T>C	ENSP00000516075.1:n.*187T>C
ENST00000705175.1:c.1004T>C	ENSP00000516077.1:p.Leu335Pro
ENST00000705176.1:c.1064T>C	ENSP00000516078.1:p.Leu355Pro
ENST00000705177.1:c.*462T>C	ENSP00000516079.1:n.*462T>C
ENST00000705178.1:c.401T>C	ENSP00000516080.1:p.Leu134Pro
ENST00000705179.1:c.596T>C	ENSP00000516081.1:p.Leu199Pro
ENST00000705180.1:c.536T>C	ENSP00000516082.1:p.Leu179Pro
ENST00000705235.1:c.878T>C	ENSP00000516093.1:p.Leu293Pro
ENST00000705236.1:c.818T>C	ENSP00000516094.1:p.Leu273Pro
ENST00000705237.1:c.536T>C	ENSP00000516095.1:p.Leu179Pro
ENST00000705238.1:c.737T>C	ENSP00000516096.1:p.Leu246Pro
ENST00000705239.1:c.815T>C	ENSP00000516097.1:p.Leu272Pro
ENST00000705240.1:c.*487T>C	ENSP00000516098.1:n.*487T>C
ENST00000705241.1:c.*10T>C	ENSP00000516099.1:n.*10T>C
ENST00000705242.1:c.815T>C	ENSP00000516100.1:p.Leu272Pro
ENST00000705249.1:c.818T>C	ENSP00000516101.1:p.Leu273Pro
ENST00000705250.1:c.596T>C	ENSP00000516102.1:p.Leu199Pro
ENST00000705251.1:c.*465T>C	ENSP00000516103.1:n.*465T>C
ENST00000705252.1:c.*288T>C	ENSP00000516104.1:n.*288T>C
ENST00000705253.1:c.*288T>C	ENSP00000516105.1:n.*288T>C
ENST00000705254.1:c.425T>C	ENSP00000516106.1:p.Leu142Pro
ENST00000705255.1:n.1444T>C
ENST00000705256.1:c.875T>C	ENSP00000516107.1:p.Leu292Pro
ENST00000366847.9:c.878T>C MANE Select	ENSP00000355812.3:p.Leu293Pro
ENST00000349556.4:c.818T>C	ENSP00000230248.6:p.Leu273Pro
ENST00000366847.8:c.878T>C	ENSP00000355812.3:p.Leu293Pro
ENST00000488525.1:n.64T>C
ENST00000496181.1:n.282T>C
ENST00000622353.4:c.737T>C	ENSP00000479115.1:p.Leu246Pro
NM_001278690.1:c.737T>C	NP_001265619.1:p.Leu246Pro
NM_007045.3:c.878T>C	NP_008976.1:p.Leu293Pro
NM_194429.2:c.818T>C	NP_919410.1:p.Leu273Pro
NM_007045.4:c.878T>C MANE Select	NP_008976.1:p.Leu293Pro
NM_194429.3:c.818T>C	NP_919410.1:p.Leu273Pro
NM_001278690.2:c.737T>C	NP_001265619.1:p.Leu246Pro