Canonical Allele Identifier: CA453081457

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438348C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024860C>G , CM000668.2:g.167024860C>G	GRCh38
NC_000006.11:g.167438348C>G , CM000668.1:g.167438348C>G	GRCh37
NC_000006.10:g.167358338C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.825C>G	ENSP00000230248.6:p.Ser275=
ENST00000488525.2:c.*17C>G	ENSP00000516042.1:n.*17C>G
ENST00000609590.2:n.1757C>G
ENST00000704900.1:c.462C>G	ENSP00000516059.1:p.Ser154=
ENST00000704901.1:c.*472C>G	ENSP00000516060.1:n.*472C>G
ENST00000704959.1:n.1150C>G
ENST00000704982.1:n.1595C>G
ENST00000704985.1:n.1991C>G
ENST00000704986.1:n.1991C>G
ENST00000705029.1:n.1716C>G
ENST00000705059.1:n.1540C>G
ENST00000705168.1:c.138C>G	ENSP00000516071.1:p.Ser46=
ENST00000705169.1:c.138C>G	ENSP00000516072.1:p.Ser46=
ENST00000705170.1:c.138C>G	ENSP00000516073.1:p.Ser46=
ENST00000705171.1:n.930C>G
ENST00000705173.1:c.*194C>G	ENSP00000516075.1:n.*194C>G
ENST00000705175.1:c.1011C>G	ENSP00000516077.1:p.Ser337=
ENST00000705176.1:c.1071C>G	ENSP00000516078.1:p.Ser357=
ENST00000705177.1:c.*469C>G	ENSP00000516079.1:n.*469C>G
ENST00000705178.1:c.408C>G	ENSP00000516080.1:p.Ser136=
ENST00000705179.1:c.603C>G	ENSP00000516081.1:p.Ser201=
ENST00000705180.1:c.543C>G	ENSP00000516082.1:p.Ser181=
ENST00000705235.1:c.885C>G	ENSP00000516093.1:p.Ser295=
ENST00000705236.1:c.825C>G	ENSP00000516094.1:p.Ser275=
ENST00000705237.1:c.543C>G	ENSP00000516095.1:p.Ser181=
ENST00000705238.1:c.744C>G	ENSP00000516096.1:p.Ser248=
ENST00000705239.1:c.822C>G	ENSP00000516097.1:p.Ser274=
ENST00000705240.1:c.*494C>G	ENSP00000516098.1:n.*494C>G
ENST00000705241.1:c.*17C>G	ENSP00000516099.1:n.*17C>G
ENST00000705242.1:c.822C>G	ENSP00000516100.1:p.Ser274=
ENST00000705249.1:c.825C>G	ENSP00000516101.1:p.Ser275=
ENST00000705250.1:c.603C>G	ENSP00000516102.1:p.Ser201=
ENST00000705251.1:c.*472C>G	ENSP00000516103.1:n.*472C>G
ENST00000705252.1:c.*295C>G	ENSP00000516104.1:n.*295C>G
ENST00000705253.1:c.*295C>G	ENSP00000516105.1:n.*295C>G
ENST00000705254.1:c.432C>G	ENSP00000516106.1:p.Ser144=
ENST00000705255.1:n.1451C>G
ENST00000705256.1:c.882C>G	ENSP00000516107.1:p.Ser294=
ENST00000366847.9:c.885C>G MANE Select	ENSP00000355812.3:p.Ser295=
ENST00000349556.4:c.825C>G	ENSP00000230248.6:p.Ser275=
ENST00000366847.8:c.885C>G	ENSP00000355812.3:p.Ser295=
ENST00000488525.1:n.71C>G
ENST00000496181.1:n.289C>G
ENST00000622353.4:c.744C>G	ENSP00000479115.1:p.Ser248=
NM_001278690.1:c.744C>G	NP_001265619.1:p.Ser248=
NM_007045.3:c.885C>G	NP_008976.1:p.Ser295=
NM_194429.2:c.825C>G	NP_919410.1:p.Ser275=
NM_007045.4:c.885C>G MANE Select	NP_008976.1:p.Ser295=
NM_194429.3:c.825C>G	NP_919410.1:p.Ser275=
NM_001278690.2:c.744C>G	NP_001265619.1:p.Ser248=