Canonical Allele Identifier: CA366409924

Gene: CEP43

Linked Data

• dbSNP Id: rs144758821
• gnomAD v2: 6-167438326-C-T
• gnomAD v4: 6-167024838-C-T
• MyVariant Identifiers: chr6:g.167438326C>T (hg19) ; chr6:g.167024838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024838C>T , CM000668.2:g.167024838C>T	GRCh38
NC_000006.11:g.167438326C>T , CM000668.1:g.167438326C>T	GRCh37
NC_000006.10:g.167358316C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.803C>T	ENSP00000230248.6:p.Pro268Leu
ENST00000488525.2:c.859C>T	ENSP00000516042.1:p.Pro287Ser
ENST00000609590.2:n.1735C>T
ENST00000704900.1:c.440C>T	ENSP00000516059.1:p.Pro147Leu
ENST00000704901.1:c.*450C>T	ENSP00000516060.1:n.*450C>T
ENST00000704959.1:n.1128C>T
ENST00000704982.1:n.1573C>T
ENST00000704985.1:n.1969C>T
ENST00000704986.1:n.1969C>T
ENST00000705029.1:n.1694C>T
ENST00000705059.1:n.1518C>T
ENST00000705168.1:c.116C>T	ENSP00000516071.1:p.Pro39Leu
ENST00000705169.1:c.116C>T	ENSP00000516072.1:p.Pro39Leu
ENST00000705170.1:c.116C>T	ENSP00000516073.1:p.Pro39Leu
ENST00000705171.1:n.908C>T
ENST00000705173.1:c.*172C>T	ENSP00000516075.1:n.*172C>T
ENST00000705175.1:c.989C>T	ENSP00000516077.1:p.Pro330Leu
ENST00000705176.1:c.1049C>T	ENSP00000516078.1:p.Pro350Leu
ENST00000705177.1:c.*447C>T	ENSP00000516079.1:n.*447C>T
ENST00000705178.1:c.386C>T	ENSP00000516080.1:p.Pro129Leu
ENST00000705179.1:c.581C>T	ENSP00000516081.1:p.Pro194Leu
ENST00000705180.1:c.521C>T	ENSP00000516082.1:p.Pro174Leu
ENST00000705235.1:c.863C>T	ENSP00000516093.1:p.Pro288Leu
ENST00000705236.1:c.803C>T	ENSP00000516094.1:p.Pro268Leu
ENST00000705237.1:c.521C>T	ENSP00000516095.1:p.Pro174Leu
ENST00000705238.1:c.722C>T	ENSP00000516096.1:p.Pro241Leu
ENST00000705239.1:c.800C>T	ENSP00000516097.1:p.Pro267Leu
ENST00000705240.1:c.*472C>T	ENSP00000516098.1:n.*472C>T
ENST00000705241.1:c.799C>T	ENSP00000516099.1:p.Pro267Ser
ENST00000705242.1:c.800C>T	ENSP00000516100.1:p.Pro267Leu
ENST00000705249.1:c.803C>T	ENSP00000516101.1:p.Pro268Leu
ENST00000705250.1:c.581C>T	ENSP00000516102.1:p.Pro194Leu
ENST00000705251.1:c.*450C>T	ENSP00000516103.1:n.*450C>T
ENST00000705252.1:c.*273C>T	ENSP00000516104.1:n.*273C>T
ENST00000705253.1:c.*273C>T	ENSP00000516105.1:n.*273C>T
ENST00000705254.1:c.410C>T	ENSP00000516106.1:p.Pro137Leu
ENST00000705255.1:n.1429C>T
ENST00000705256.1:c.860C>T	ENSP00000516107.1:p.Pro287Leu
ENST00000366847.9:c.863C>T MANE Select	ENSP00000355812.3:p.Pro288Leu
ENST00000349556.4:c.803C>T	ENSP00000230248.6:p.Pro268Leu
ENST00000366847.8:c.863C>T	ENSP00000355812.3:p.Pro288Leu
ENST00000488525.1:n.49C>T
ENST00000496181.1:n.267C>T
ENST00000622353.4:c.722C>T	ENSP00000479115.1:p.Pro241Leu
NM_001278690.1:c.722C>T	NP_001265619.1:p.Pro241Leu
NM_007045.3:c.863C>T	NP_008976.1:p.Pro288Leu
NM_194429.2:c.803C>T	NP_919410.1:p.Pro268Leu
NM_007045.4:c.863C>T MANE Select	NP_008976.1:p.Pro288Leu
NM_194429.3:c.803C>T	NP_919410.1:p.Pro268Leu
NM_001278690.2:c.722C>T	NP_001265619.1:p.Pro241Leu