Canonical Allele Identifier: CA366409921

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438325C>A (hg19) ; chr6:g.167024837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024837C>A , CM000668.2:g.167024837C>A	GRCh38
NC_000006.11:g.167438325C>A , CM000668.1:g.167438325C>A	GRCh37
NC_000006.10:g.167358315C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.802C>A	ENSP00000230248.6:p.Pro268Thr
ENST00000488525.2:c.858C>A	ENSP00000516042.1:p.Pro286=
ENST00000609590.2:n.1734C>A
ENST00000704900.1:c.439C>A	ENSP00000516059.1:p.Pro147Thr
ENST00000704901.1:c.*449C>A	ENSP00000516060.1:n.*449C>A
ENST00000704959.1:n.1127C>A
ENST00000704982.1:n.1572C>A
ENST00000704985.1:n.1968C>A
ENST00000704986.1:n.1968C>A
ENST00000705029.1:n.1693C>A
ENST00000705059.1:n.1517C>A
ENST00000705168.1:c.115C>A	ENSP00000516071.1:p.Pro39Thr
ENST00000705169.1:c.115C>A	ENSP00000516072.1:p.Pro39Thr
ENST00000705170.1:c.115C>A	ENSP00000516073.1:p.Pro39Thr
ENST00000705171.1:n.907C>A
ENST00000705173.1:c.*171C>A	ENSP00000516075.1:n.*171C>A
ENST00000705175.1:c.988C>A	ENSP00000516077.1:p.Pro330Thr
ENST00000705176.1:c.1048C>A	ENSP00000516078.1:p.Pro350Thr
ENST00000705177.1:c.*446C>A	ENSP00000516079.1:n.*446C>A
ENST00000705178.1:c.385C>A	ENSP00000516080.1:p.Pro129Thr
ENST00000705179.1:c.580C>A	ENSP00000516081.1:p.Pro194Thr
ENST00000705180.1:c.520C>A	ENSP00000516082.1:p.Pro174Thr
ENST00000705235.1:c.862C>A	ENSP00000516093.1:p.Pro288Thr
ENST00000705236.1:c.802C>A	ENSP00000516094.1:p.Pro268Thr
ENST00000705237.1:c.520C>A	ENSP00000516095.1:p.Pro174Thr
ENST00000705238.1:c.721C>A	ENSP00000516096.1:p.Pro241Thr
ENST00000705239.1:c.799C>A	ENSP00000516097.1:p.Pro267Thr
ENST00000705240.1:c.*471C>A	ENSP00000516098.1:n.*471C>A
ENST00000705241.1:c.798C>A	ENSP00000516099.1:p.Pro266=
ENST00000705242.1:c.799C>A	ENSP00000516100.1:p.Pro267Thr
ENST00000705249.1:c.802C>A	ENSP00000516101.1:p.Pro268Thr
ENST00000705250.1:c.580C>A	ENSP00000516102.1:p.Pro194Thr
ENST00000705251.1:c.*449C>A	ENSP00000516103.1:n.*449C>A
ENST00000705252.1:c.*272C>A	ENSP00000516104.1:n.*272C>A
ENST00000705253.1:c.*272C>A	ENSP00000516105.1:n.*272C>A
ENST00000705254.1:c.409C>A	ENSP00000516106.1:p.Pro137Thr
ENST00000705255.1:n.1428C>A
ENST00000705256.1:c.859C>A	ENSP00000516107.1:p.Pro287Thr
ENST00000366847.9:c.862C>A MANE Select	ENSP00000355812.3:p.Pro288Thr
ENST00000349556.4:c.802C>A	ENSP00000230248.6:p.Pro268Thr
ENST00000366847.8:c.862C>A	ENSP00000355812.3:p.Pro288Thr
ENST00000488525.1:n.48C>A
ENST00000496181.1:n.266C>A
ENST00000622353.4:c.721C>A	ENSP00000479115.1:p.Pro241Thr
NM_001278690.1:c.721C>A	NP_001265619.1:p.Pro241Thr
NM_007045.3:c.862C>A	NP_008976.1:p.Pro288Thr
NM_194429.2:c.802C>A	NP_919410.1:p.Pro268Thr
NM_007045.4:c.862C>A MANE Select	NP_008976.1:p.Pro288Thr
NM_194429.3:c.802C>A	NP_919410.1:p.Pro268Thr
NM_001278690.2:c.721C>A	NP_001265619.1:p.Pro241Thr