Canonical Allele Identifier: CA366410034

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024891-G-A
• MyVariant Identifiers: chr6:g.167438379G>A (hg19) ; chr6:g.167024891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024891G>A , CM000668.2:g.167024891G>A	GRCh38
NC_000006.11:g.167438379G>A , CM000668.1:g.167438379G>A	GRCh37
NC_000006.10:g.167358369G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.856G>A	ENSP00000230248.6:p.Glu286Lys
ENST00000488525.2:c.*48G>A	ENSP00000516042.1:n.*48G>A
ENST00000609590.2:n.1788G>A
ENST00000704900.1:c.493G>A	ENSP00000516059.1:p.Glu165Lys
ENST00000704901.1:c.*503G>A	ENSP00000516060.1:n.*503G>A
ENST00000704959.1:n.1181G>A
ENST00000704982.1:n.1626G>A
ENST00000704985.1:n.2022G>A
ENST00000704986.1:n.2022G>A
ENST00000705029.1:n.1747G>A
ENST00000705059.1:n.1571G>A
ENST00000705168.1:c.169G>A	ENSP00000516071.1:p.Glu57Lys
ENST00000705169.1:c.169G>A	ENSP00000516072.1:p.Glu57Lys
ENST00000705170.1:c.169G>A	ENSP00000516073.1:p.Glu57Lys
ENST00000705171.1:n.961G>A
ENST00000705173.1:c.*225G>A	ENSP00000516075.1:n.*225G>A
ENST00000705175.1:c.1042G>A	ENSP00000516077.1:p.Glu348Lys
ENST00000705176.1:c.1102G>A	ENSP00000516078.1:p.Glu368Lys
ENST00000705177.1:c.*500G>A	ENSP00000516079.1:n.*500G>A
ENST00000705178.1:c.439G>A	ENSP00000516080.1:p.Glu147Lys
ENST00000705179.1:c.634G>A	ENSP00000516081.1:p.Glu212Lys
ENST00000705180.1:c.574G>A	ENSP00000516082.1:p.Glu192Lys
ENST00000705235.1:c.916G>A	ENSP00000516093.1:p.Glu306Lys
ENST00000705236.1:c.856G>A	ENSP00000516094.1:p.Glu286Lys
ENST00000705237.1:c.574G>A	ENSP00000516095.1:p.Glu192Lys
ENST00000705238.1:c.775G>A	ENSP00000516096.1:p.Glu259Lys
ENST00000705239.1:c.853G>A	ENSP00000516097.1:p.Glu285Lys
ENST00000705240.1:c.*525G>A	ENSP00000516098.1:n.*525G>A
ENST00000705241.1:c.*48G>A	ENSP00000516099.1:n.*48G>A
ENST00000705242.1:c.853G>A	ENSP00000516100.1:p.Glu285Lys
ENST00000705249.1:c.856G>A	ENSP00000516101.1:p.Glu286Lys
ENST00000705250.1:c.634G>A	ENSP00000516102.1:p.Glu212Lys
ENST00000705251.1:c.*503G>A	ENSP00000516103.1:n.*503G>A
ENST00000705252.1:c.*326G>A	ENSP00000516104.1:n.*326G>A
ENST00000705253.1:c.*326G>A	ENSP00000516105.1:n.*326G>A
ENST00000705254.1:c.463G>A	ENSP00000516106.1:p.Glu155Lys
ENST00000705255.1:n.1482G>A
ENST00000705256.1:c.913G>A	ENSP00000516107.1:p.Glu305Lys
ENST00000366847.9:c.916G>A MANE Select	ENSP00000355812.3:p.Glu306Lys
ENST00000349556.4:c.856G>A	ENSP00000230248.6:p.Glu286Lys
ENST00000366847.8:c.916G>A	ENSP00000355812.3:p.Glu306Lys
ENST00000488525.1:n.102G>A
ENST00000496181.1:n.320G>A
ENST00000622353.4:c.775G>A	ENSP00000479115.1:p.Glu259Lys
NM_001278690.1:c.775G>A	NP_001265619.1:p.Glu259Lys
NM_007045.3:c.916G>A	NP_008976.1:p.Glu306Lys
NM_194429.2:c.856G>A	NP_919410.1:p.Glu286Lys
NM_007045.4:c.916G>A MANE Select	NP_008976.1:p.Glu306Lys
NM_194429.3:c.856G>A	NP_919410.1:p.Glu286Lys
NM_001278690.2:c.775G>A	NP_001265619.1:p.Glu259Lys