Canonical Allele Identifier: CA366409999

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438362C>T (hg19) ; chr6:g.167024874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024874C>T , CM000668.2:g.167024874C>T	GRCh38
NC_000006.11:g.167438362C>T , CM000668.1:g.167438362C>T	GRCh37
NC_000006.10:g.167358352C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.839C>T	ENSP00000230248.6:p.Pro280Leu
ENST00000488525.2:c.*31C>T	ENSP00000516042.1:n.*31C>T
ENST00000609590.2:n.1771C>T
ENST00000704900.1:c.476C>T	ENSP00000516059.1:p.Pro159Leu
ENST00000704901.1:c.*486C>T	ENSP00000516060.1:n.*486C>T
ENST00000704959.1:n.1164C>T
ENST00000704982.1:n.1609C>T
ENST00000704985.1:n.2005C>T
ENST00000704986.1:n.2005C>T
ENST00000705029.1:n.1730C>T
ENST00000705059.1:n.1554C>T
ENST00000705168.1:c.152C>T	ENSP00000516071.1:p.Pro51Leu
ENST00000705169.1:c.152C>T	ENSP00000516072.1:p.Pro51Leu
ENST00000705170.1:c.152C>T	ENSP00000516073.1:p.Pro51Leu
ENST00000705171.1:n.944C>T
ENST00000705173.1:c.*208C>T	ENSP00000516075.1:n.*208C>T
ENST00000705175.1:c.1025C>T	ENSP00000516077.1:p.Pro342Leu
ENST00000705176.1:c.1085C>T	ENSP00000516078.1:p.Pro362Leu
ENST00000705177.1:c.*483C>T	ENSP00000516079.1:n.*483C>T
ENST00000705178.1:c.422C>T	ENSP00000516080.1:p.Pro141Leu
ENST00000705179.1:c.617C>T	ENSP00000516081.1:p.Pro206Leu
ENST00000705180.1:c.557C>T	ENSP00000516082.1:p.Pro186Leu
ENST00000705235.1:c.899C>T	ENSP00000516093.1:p.Pro300Leu
ENST00000705236.1:c.839C>T	ENSP00000516094.1:p.Pro280Leu
ENST00000705237.1:c.557C>T	ENSP00000516095.1:p.Pro186Leu
ENST00000705238.1:c.758C>T	ENSP00000516096.1:p.Pro253Leu
ENST00000705239.1:c.836C>T	ENSP00000516097.1:p.Pro279Leu
ENST00000705240.1:c.*508C>T	ENSP00000516098.1:n.*508C>T
ENST00000705241.1:c.*31C>T	ENSP00000516099.1:n.*31C>T
ENST00000705242.1:c.836C>T	ENSP00000516100.1:p.Pro279Leu
ENST00000705249.1:c.839C>T	ENSP00000516101.1:p.Pro280Leu
ENST00000705250.1:c.617C>T	ENSP00000516102.1:p.Pro206Leu
ENST00000705251.1:c.*486C>T	ENSP00000516103.1:n.*486C>T
ENST00000705252.1:c.*309C>T	ENSP00000516104.1:n.*309C>T
ENST00000705253.1:c.*309C>T	ENSP00000516105.1:n.*309C>T
ENST00000705254.1:c.446C>T	ENSP00000516106.1:p.Pro149Leu
ENST00000705255.1:n.1465C>T
ENST00000705256.1:c.896C>T	ENSP00000516107.1:p.Pro299Leu
ENST00000366847.9:c.899C>T MANE Select	ENSP00000355812.3:p.Pro300Leu
ENST00000349556.4:c.839C>T	ENSP00000230248.6:p.Pro280Leu
ENST00000366847.8:c.899C>T	ENSP00000355812.3:p.Pro300Leu
ENST00000488525.1:n.85C>T
ENST00000496181.1:n.303C>T
ENST00000622353.4:c.758C>T	ENSP00000479115.1:p.Pro253Leu
NM_001278690.1:c.758C>T	NP_001265619.1:p.Pro253Leu
NM_007045.3:c.899C>T	NP_008976.1:p.Pro300Leu
NM_194429.2:c.839C>T	NP_919410.1:p.Pro280Leu
NM_007045.4:c.899C>T MANE Select	NP_008976.1:p.Pro300Leu
NM_194429.3:c.839C>T	NP_919410.1:p.Pro280Leu
NM_001278690.2:c.758C>T	NP_001265619.1:p.Pro253Leu