Canonical Allele Identifier: CA366409919

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438323C>T (hg19) ; chr6:g.167024835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024835C>T , CM000668.2:g.167024835C>T	GRCh38
NC_000006.11:g.167438323C>T , CM000668.1:g.167438323C>T	GRCh37
NC_000006.10:g.167358313C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.800C>T	ENSP00000230248.6:p.Pro267Leu
ENST00000488525.2:c.856C>T	ENSP00000516042.1:p.Pro286Ser
ENST00000609590.2:n.1732C>T
ENST00000704900.1:c.437C>T	ENSP00000516059.1:p.Pro146Leu
ENST00000704901.1:c.*447C>T	ENSP00000516060.1:n.*447C>T
ENST00000704959.1:n.1125C>T
ENST00000704982.1:n.1570C>T
ENST00000704985.1:n.1966C>T
ENST00000704986.1:n.1966C>T
ENST00000705029.1:n.1691C>T
ENST00000705059.1:n.1515C>T
ENST00000705168.1:c.113C>T	ENSP00000516071.1:p.Pro38Leu
ENST00000705169.1:c.113C>T	ENSP00000516072.1:p.Pro38Leu
ENST00000705170.1:c.113C>T	ENSP00000516073.1:p.Pro38Leu
ENST00000705171.1:n.905C>T
ENST00000705173.1:c.*169C>T	ENSP00000516075.1:n.*169C>T
ENST00000705175.1:c.986C>T	ENSP00000516077.1:p.Pro329Leu
ENST00000705176.1:c.1046C>T	ENSP00000516078.1:p.Pro349Leu
ENST00000705177.1:c.*444C>T	ENSP00000516079.1:n.*444C>T
ENST00000705178.1:c.383C>T	ENSP00000516080.1:p.Pro128Leu
ENST00000705179.1:c.578C>T	ENSP00000516081.1:p.Pro193Leu
ENST00000705180.1:c.518C>T	ENSP00000516082.1:p.Pro173Leu
ENST00000705235.1:c.860C>T	ENSP00000516093.1:p.Pro287Leu
ENST00000705236.1:c.800C>T	ENSP00000516094.1:p.Pro267Leu
ENST00000705237.1:c.518C>T	ENSP00000516095.1:p.Pro173Leu
ENST00000705238.1:c.719C>T	ENSP00000516096.1:p.Pro240Leu
ENST00000705239.1:c.797C>T	ENSP00000516097.1:p.Pro266Leu
ENST00000705240.1:c.*469C>T	ENSP00000516098.1:n.*469C>T
ENST00000705241.1:c.796C>T	ENSP00000516099.1:p.Pro266Ser
ENST00000705242.1:c.797C>T	ENSP00000516100.1:p.Pro266Leu
ENST00000705249.1:c.800C>T	ENSP00000516101.1:p.Pro267Leu
ENST00000705250.1:c.578C>T	ENSP00000516102.1:p.Pro193Leu
ENST00000705251.1:c.*447C>T	ENSP00000516103.1:n.*447C>T
ENST00000705252.1:c.*270C>T	ENSP00000516104.1:n.*270C>T
ENST00000705253.1:c.*270C>T	ENSP00000516105.1:n.*270C>T
ENST00000705254.1:c.407C>T	ENSP00000516106.1:p.Pro136Leu
ENST00000705255.1:n.1426C>T
ENST00000705256.1:c.857C>T	ENSP00000516107.1:p.Pro286Leu
ENST00000366847.9:c.860C>T MANE Select	ENSP00000355812.3:p.Pro287Leu
ENST00000349556.4:c.800C>T	ENSP00000230248.6:p.Pro267Leu
ENST00000366847.8:c.860C>T	ENSP00000355812.3:p.Pro287Leu
ENST00000488525.1:n.46C>T
ENST00000496181.1:n.264C>T
ENST00000622353.4:c.719C>T	ENSP00000479115.1:p.Pro240Leu
NM_001278690.1:c.719C>T	NP_001265619.1:p.Pro240Leu
NM_007045.3:c.860C>T	NP_008976.1:p.Pro287Leu
NM_194429.2:c.800C>T	NP_919410.1:p.Pro267Leu
NM_007045.4:c.860C>T MANE Select	NP_008976.1:p.Pro287Leu
NM_194429.3:c.800C>T	NP_919410.1:p.Pro267Leu
NM_001278690.2:c.719C>T	NP_001265619.1:p.Pro240Leu