Canonical Allele Identifier: CA453081427

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438321A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024833A>C , CM000668.2:g.167024833A>C	GRCh38
NC_000006.11:g.167438321A>C , CM000668.1:g.167438321A>C	GRCh37
NC_000006.10:g.167358311A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.798A>C	ENSP00000230248.6:p.Ala266=
ENST00000488525.2:c.854A>C	ENSP00000516042.1:p.His285Pro
ENST00000609590.2:n.1730A>C
ENST00000704900.1:c.435A>C	ENSP00000516059.1:p.Ala145=
ENST00000704901.1:c.*445A>C	ENSP00000516060.1:n.*445A>C
ENST00000704959.1:n.1123A>C
ENST00000704982.1:n.1568A>C
ENST00000704985.1:n.1964A>C
ENST00000704986.1:n.1964A>C
ENST00000705029.1:n.1689A>C
ENST00000705059.1:n.1513A>C
ENST00000705168.1:c.111A>C	ENSP00000516071.1:p.Ala37=
ENST00000705169.1:c.111A>C	ENSP00000516072.1:p.Ala37=
ENST00000705170.1:c.111A>C	ENSP00000516073.1:p.Ala37=
ENST00000705171.1:n.903A>C
ENST00000705173.1:c.*167A>C	ENSP00000516075.1:n.*167A>C
ENST00000705175.1:c.984A>C	ENSP00000516077.1:p.Ala328=
ENST00000705176.1:c.1044A>C	ENSP00000516078.1:p.Ala348=
ENST00000705177.1:c.*442A>C	ENSP00000516079.1:n.*442A>C
ENST00000705178.1:c.381A>C	ENSP00000516080.1:p.Ala127=
ENST00000705179.1:c.576A>C	ENSP00000516081.1:p.Ala192=
ENST00000705180.1:c.516A>C	ENSP00000516082.1:p.Ala172=
ENST00000705235.1:c.858A>C	ENSP00000516093.1:p.Ala286=
ENST00000705236.1:c.798A>C	ENSP00000516094.1:p.Ala266=
ENST00000705237.1:c.516A>C	ENSP00000516095.1:p.Ala172=
ENST00000705238.1:c.717A>C	ENSP00000516096.1:p.Ala239=
ENST00000705239.1:c.795A>C	ENSP00000516097.1:p.Ala265=
ENST00000705240.1:c.*467A>C	ENSP00000516098.1:n.*467A>C
ENST00000705241.1:c.794A>C	ENSP00000516099.1:p.His265Pro
ENST00000705242.1:c.795A>C	ENSP00000516100.1:p.Ala265=
ENST00000705249.1:c.798A>C	ENSP00000516101.1:p.Ala266=
ENST00000705250.1:c.576A>C	ENSP00000516102.1:p.Ala192=
ENST00000705251.1:c.*445A>C	ENSP00000516103.1:n.*445A>C
ENST00000705252.1:c.*268A>C	ENSP00000516104.1:n.*268A>C
ENST00000705253.1:c.*268A>C	ENSP00000516105.1:n.*268A>C
ENST00000705254.1:c.405A>C	ENSP00000516106.1:p.Ala135=
ENST00000705255.1:n.1424A>C
ENST00000705256.1:c.855A>C	ENSP00000516107.1:p.Ala285=
ENST00000366847.9:c.858A>C MANE Select	ENSP00000355812.3:p.Ala286=
ENST00000349556.4:c.798A>C	ENSP00000230248.6:p.Ala266=
ENST00000366847.8:c.858A>C	ENSP00000355812.3:p.Ala286=
ENST00000488525.1:n.44A>C
ENST00000496181.1:n.262A>C
ENST00000622353.4:c.717A>C	ENSP00000479115.1:p.Ala239=
NM_001278690.1:c.717A>C	NP_001265619.1:p.Ala239=
NM_007045.3:c.858A>C	NP_008976.1:p.Ala286=
NM_194429.2:c.798A>C	NP_919410.1:p.Ala266=
NM_007045.4:c.858A>C MANE Select	NP_008976.1:p.Ala286=
NM_194429.3:c.798A>C	NP_919410.1:p.Ala266=
NM_001278690.2:c.717A>C	NP_001265619.1:p.Ala239=