Canonical Allele Identifier: CA366409887

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438307T>C (hg19) ; chr6:g.167024819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024819T>C , CM000668.2:g.167024819T>C	GRCh38
NC_000006.11:g.167438307T>C , CM000668.1:g.167438307T>C	GRCh37
NC_000006.10:g.167358297T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.784T>C	ENSP00000230248.6:p.Ser262Pro
ENST00000488525.2:c.840T>C	ENSP00000516042.1:p.Pro280=
ENST00000609590.2:n.1716T>C
ENST00000704900.1:c.421T>C	ENSP00000516059.1:p.Ser141Pro
ENST00000704901.1:c.*431T>C	ENSP00000516060.1:n.*431T>C
ENST00000704959.1:n.1109T>C
ENST00000704982.1:n.1554T>C
ENST00000704985.1:n.1950T>C
ENST00000704986.1:n.1950T>C
ENST00000705029.1:n.1675T>C
ENST00000705059.1:n.1499T>C
ENST00000705168.1:c.97T>C	ENSP00000516071.1:p.Ser33Pro
ENST00000705169.1:c.97T>C	ENSP00000516072.1:p.Ser33Pro
ENST00000705170.1:c.97T>C	ENSP00000516073.1:p.Ser33Pro
ENST00000705171.1:n.889T>C
ENST00000705173.1:c.*153T>C	ENSP00000516075.1:n.*153T>C
ENST00000705175.1:c.970T>C	ENSP00000516077.1:p.Ser324Pro
ENST00000705176.1:c.1030T>C	ENSP00000516078.1:p.Ser344Pro
ENST00000705177.1:c.*428T>C	ENSP00000516079.1:n.*428T>C
ENST00000705178.1:c.367T>C	ENSP00000516080.1:p.Ser123Pro
ENST00000705179.1:c.562T>C	ENSP00000516081.1:p.Ser188Pro
ENST00000705180.1:c.502T>C	ENSP00000516082.1:p.Ser168Pro
ENST00000705235.1:c.844T>C	ENSP00000516093.1:p.Ser282Pro
ENST00000705236.1:c.784T>C	ENSP00000516094.1:p.Ser262Pro
ENST00000705237.1:c.502T>C	ENSP00000516095.1:p.Ser168Pro
ENST00000705238.1:c.703T>C	ENSP00000516096.1:p.Ser235Pro
ENST00000705239.1:c.781T>C	ENSP00000516097.1:p.Ser261Pro
ENST00000705240.1:c.*453T>C	ENSP00000516098.1:n.*453T>C
ENST00000705241.1:c.780T>C	ENSP00000516099.1:p.Pro260=
ENST00000705242.1:c.781T>C	ENSP00000516100.1:p.Ser261Pro
ENST00000705249.1:c.784T>C	ENSP00000516101.1:p.Ser262Pro
ENST00000705250.1:c.562T>C	ENSP00000516102.1:p.Ser188Pro
ENST00000705251.1:c.*431T>C	ENSP00000516103.1:n.*431T>C
ENST00000705252.1:c.*254T>C	ENSP00000516104.1:n.*254T>C
ENST00000705253.1:c.*254T>C	ENSP00000516105.1:n.*254T>C
ENST00000705254.1:c.391T>C	ENSP00000516106.1:p.Ser131Pro
ENST00000705255.1:n.1410T>C
ENST00000705256.1:c.841T>C	ENSP00000516107.1:p.Ser281Pro
ENST00000366847.9:c.844T>C MANE Select	ENSP00000355812.3:p.Ser282Pro
ENST00000349556.4:c.784T>C	ENSP00000230248.6:p.Ser262Pro
ENST00000366847.8:c.844T>C	ENSP00000355812.3:p.Ser282Pro
ENST00000488525.1:n.30T>C
ENST00000496181.1:n.248T>C
ENST00000622353.4:c.703T>C	ENSP00000479115.1:p.Ser235Pro
NM_001278690.1:c.703T>C	NP_001265619.1:p.Ser235Pro
NM_007045.3:c.844T>C	NP_008976.1:p.Ser282Pro
NM_194429.2:c.784T>C	NP_919410.1:p.Ser262Pro
NM_007045.4:c.844T>C MANE Select	NP_008976.1:p.Ser282Pro
NM_194429.3:c.784T>C	NP_919410.1:p.Ser262Pro
NM_001278690.2:c.703T>C	NP_001265619.1:p.Ser235Pro