Canonical Allele Identifier: CA366409996

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024873-C-T
• COSMIC: COSM1698277
• MyVariant Identifiers: chr6:g.167438361C>T (hg19) ; chr6:g.167024873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024873C>T , CM000668.2:g.167024873C>T	GRCh38
NC_000006.11:g.167438361C>T , CM000668.1:g.167438361C>T	GRCh37
NC_000006.10:g.167358351C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.838C>T	ENSP00000230248.6:p.Pro280Ser
ENST00000488525.2:c.*30C>T	ENSP00000516042.1:n.*30C>T
ENST00000609590.2:n.1770C>T
ENST00000704900.1:c.475C>T	ENSP00000516059.1:p.Pro159Ser
ENST00000704901.1:c.*485C>T	ENSP00000516060.1:n.*485C>T
ENST00000704959.1:n.1163C>T
ENST00000704982.1:n.1608C>T
ENST00000704985.1:n.2004C>T
ENST00000704986.1:n.2004C>T
ENST00000705029.1:n.1729C>T
ENST00000705059.1:n.1553C>T
ENST00000705168.1:c.151C>T	ENSP00000516071.1:p.Pro51Ser
ENST00000705169.1:c.151C>T	ENSP00000516072.1:p.Pro51Ser
ENST00000705170.1:c.151C>T	ENSP00000516073.1:p.Pro51Ser
ENST00000705171.1:n.943C>T
ENST00000705173.1:c.*207C>T	ENSP00000516075.1:n.*207C>T
ENST00000705175.1:c.1024C>T	ENSP00000516077.1:p.Pro342Ser
ENST00000705176.1:c.1084C>T	ENSP00000516078.1:p.Pro362Ser
ENST00000705177.1:c.*482C>T	ENSP00000516079.1:n.*482C>T
ENST00000705178.1:c.421C>T	ENSP00000516080.1:p.Pro141Ser
ENST00000705179.1:c.616C>T	ENSP00000516081.1:p.Pro206Ser
ENST00000705180.1:c.556C>T	ENSP00000516082.1:p.Pro186Ser
ENST00000705235.1:c.898C>T	ENSP00000516093.1:p.Pro300Ser
ENST00000705236.1:c.838C>T	ENSP00000516094.1:p.Pro280Ser
ENST00000705237.1:c.556C>T	ENSP00000516095.1:p.Pro186Ser
ENST00000705238.1:c.757C>T	ENSP00000516096.1:p.Pro253Ser
ENST00000705239.1:c.835C>T	ENSP00000516097.1:p.Pro279Ser
ENST00000705240.1:c.*507C>T	ENSP00000516098.1:n.*507C>T
ENST00000705241.1:c.*30C>T	ENSP00000516099.1:n.*30C>T
ENST00000705242.1:c.835C>T	ENSP00000516100.1:p.Pro279Ser
ENST00000705249.1:c.838C>T	ENSP00000516101.1:p.Pro280Ser
ENST00000705250.1:c.616C>T	ENSP00000516102.1:p.Pro206Ser
ENST00000705251.1:c.*485C>T	ENSP00000516103.1:n.*485C>T
ENST00000705252.1:c.*308C>T	ENSP00000516104.1:n.*308C>T
ENST00000705253.1:c.*308C>T	ENSP00000516105.1:n.*308C>T
ENST00000705254.1:c.445C>T	ENSP00000516106.1:p.Pro149Ser
ENST00000705255.1:n.1464C>T
ENST00000705256.1:c.895C>T	ENSP00000516107.1:p.Pro299Ser
ENST00000366847.9:c.898C>T MANE Select	ENSP00000355812.3:p.Pro300Ser
ENST00000349556.4:c.838C>T	ENSP00000230248.6:p.Pro280Ser
ENST00000366847.8:c.898C>T	ENSP00000355812.3:p.Pro300Ser
ENST00000488525.1:n.84C>T
ENST00000496181.1:n.302C>T
ENST00000622353.4:c.757C>T	ENSP00000479115.1:p.Pro253Ser
NM_001278690.1:c.757C>T	NP_001265619.1:p.Pro253Ser
NM_007045.3:c.898C>T	NP_008976.1:p.Pro300Ser
NM_194429.2:c.838C>T	NP_919410.1:p.Pro280Ser
NM_007045.4:c.898C>T MANE Select	NP_008976.1:p.Pro300Ser
NM_194429.3:c.838C>T	NP_919410.1:p.Pro280Ser
NM_001278690.2:c.757C>T	NP_001265619.1:p.Pro253Ser