Canonical Allele Identifier: CA366409974

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438349C>G (hg19) ; chr6:g.167024861C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024861C>G , CM000668.2:g.167024861C>G	GRCh38
NC_000006.11:g.167438349C>G , CM000668.1:g.167438349C>G	GRCh37
NC_000006.10:g.167358339C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.826C>G	ENSP00000230248.6:p.Leu276Val
ENST00000488525.2:c.*18C>G	ENSP00000516042.1:n.*18C>G
ENST00000609590.2:n.1758C>G
ENST00000704900.1:c.463C>G	ENSP00000516059.1:p.Leu155Val
ENST00000704901.1:c.*473C>G	ENSP00000516060.1:n.*473C>G
ENST00000704959.1:n.1151C>G
ENST00000704982.1:n.1596C>G
ENST00000704985.1:n.1992C>G
ENST00000704986.1:n.1992C>G
ENST00000705029.1:n.1717C>G
ENST00000705059.1:n.1541C>G
ENST00000705168.1:c.139C>G	ENSP00000516071.1:p.Leu47Val
ENST00000705169.1:c.139C>G	ENSP00000516072.1:p.Leu47Val
ENST00000705170.1:c.139C>G	ENSP00000516073.1:p.Leu47Val
ENST00000705171.1:n.931C>G
ENST00000705173.1:c.*195C>G	ENSP00000516075.1:n.*195C>G
ENST00000705175.1:c.1012C>G	ENSP00000516077.1:p.Leu338Val
ENST00000705176.1:c.1072C>G	ENSP00000516078.1:p.Leu358Val
ENST00000705177.1:c.*470C>G	ENSP00000516079.1:n.*470C>G
ENST00000705178.1:c.409C>G	ENSP00000516080.1:p.Leu137Val
ENST00000705179.1:c.604C>G	ENSP00000516081.1:p.Leu202Val
ENST00000705180.1:c.544C>G	ENSP00000516082.1:p.Leu182Val
ENST00000705235.1:c.886C>G	ENSP00000516093.1:p.Leu296Val
ENST00000705236.1:c.826C>G	ENSP00000516094.1:p.Leu276Val
ENST00000705237.1:c.544C>G	ENSP00000516095.1:p.Leu182Val
ENST00000705238.1:c.745C>G	ENSP00000516096.1:p.Leu249Val
ENST00000705239.1:c.823C>G	ENSP00000516097.1:p.Leu275Val
ENST00000705240.1:c.*495C>G	ENSP00000516098.1:n.*495C>G
ENST00000705241.1:c.*18C>G	ENSP00000516099.1:n.*18C>G
ENST00000705242.1:c.823C>G	ENSP00000516100.1:p.Leu275Val
ENST00000705249.1:c.826C>G	ENSP00000516101.1:p.Leu276Val
ENST00000705250.1:c.604C>G	ENSP00000516102.1:p.Leu202Val
ENST00000705251.1:c.*473C>G	ENSP00000516103.1:n.*473C>G
ENST00000705252.1:c.*296C>G	ENSP00000516104.1:n.*296C>G
ENST00000705253.1:c.*296C>G	ENSP00000516105.1:n.*296C>G
ENST00000705254.1:c.433C>G	ENSP00000516106.1:p.Leu145Val
ENST00000705255.1:n.1452C>G
ENST00000705256.1:c.883C>G	ENSP00000516107.1:p.Leu295Val
ENST00000366847.9:c.886C>G MANE Select	ENSP00000355812.3:p.Leu296Val
ENST00000349556.4:c.826C>G	ENSP00000230248.6:p.Leu276Val
ENST00000366847.8:c.886C>G	ENSP00000355812.3:p.Leu296Val
ENST00000488525.1:n.72C>G
ENST00000496181.1:n.290C>G
ENST00000622353.4:c.745C>G	ENSP00000479115.1:p.Leu249Val
NM_001278690.1:c.745C>G	NP_001265619.1:p.Leu249Val
NM_007045.3:c.886C>G	NP_008976.1:p.Leu296Val
NM_194429.2:c.826C>G	NP_919410.1:p.Leu276Val
NM_007045.4:c.886C>G MANE Select	NP_008976.1:p.Leu296Val
NM_194429.3:c.826C>G	NP_919410.1:p.Leu276Val
NM_001278690.2:c.745C>G	NP_001265619.1:p.Leu249Val