Canonical Allele Identifier: CA366409902

Gene: CEP43

Linked Data

• dbSNP Id: rs753697193
• MyVariant Identifiers: chr6:g.167438316G>T (hg19) ; chr6:g.167024828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024828G>T , CM000668.2:g.167024828G>T	GRCh38
NC_000006.11:g.167438316G>T , CM000668.1:g.167438316G>T	GRCh37
NC_000006.10:g.167358306G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.793G>T	ENSP00000230248.6:p.Asp265Tyr
ENST00000488525.2:c.849G>T	ENSP00000516042.1:p.Arg283=
ENST00000609590.2:n.1725G>T
ENST00000704900.1:c.430G>T	ENSP00000516059.1:p.Asp144Tyr
ENST00000704901.1:c.*440G>T	ENSP00000516060.1:n.*440G>T
ENST00000704959.1:n.1118G>T
ENST00000704982.1:n.1563G>T
ENST00000704985.1:n.1959G>T
ENST00000704986.1:n.1959G>T
ENST00000705029.1:n.1684G>T
ENST00000705059.1:n.1508G>T
ENST00000705168.1:c.106G>T	ENSP00000516071.1:p.Asp36Tyr
ENST00000705169.1:c.106G>T	ENSP00000516072.1:p.Asp36Tyr
ENST00000705170.1:c.106G>T	ENSP00000516073.1:p.Asp36Tyr
ENST00000705171.1:n.898G>T
ENST00000705173.1:c.*162G>T	ENSP00000516075.1:n.*162G>T
ENST00000705175.1:c.979G>T	ENSP00000516077.1:p.Asp327Tyr
ENST00000705176.1:c.1039G>T	ENSP00000516078.1:p.Asp347Tyr
ENST00000705177.1:c.*437G>T	ENSP00000516079.1:n.*437G>T
ENST00000705178.1:c.376G>T	ENSP00000516080.1:p.Asp126Tyr
ENST00000705179.1:c.571G>T	ENSP00000516081.1:p.Asp191Tyr
ENST00000705180.1:c.511G>T	ENSP00000516082.1:p.Asp171Tyr
ENST00000705235.1:c.853G>T	ENSP00000516093.1:p.Asp285Tyr
ENST00000705236.1:c.793G>T	ENSP00000516094.1:p.Asp265Tyr
ENST00000705237.1:c.511G>T	ENSP00000516095.1:p.Asp171Tyr
ENST00000705238.1:c.712G>T	ENSP00000516096.1:p.Asp238Tyr
ENST00000705239.1:c.790G>T	ENSP00000516097.1:p.Asp264Tyr
ENST00000705240.1:c.*462G>T	ENSP00000516098.1:n.*462G>T
ENST00000705241.1:c.789G>T	ENSP00000516099.1:p.Arg263=
ENST00000705242.1:c.790G>T	ENSP00000516100.1:p.Asp264Tyr
ENST00000705249.1:c.793G>T	ENSP00000516101.1:p.Asp265Tyr
ENST00000705250.1:c.571G>T	ENSP00000516102.1:p.Asp191Tyr
ENST00000705251.1:c.*440G>T	ENSP00000516103.1:n.*440G>T
ENST00000705252.1:c.*263G>T	ENSP00000516104.1:n.*263G>T
ENST00000705253.1:c.*263G>T	ENSP00000516105.1:n.*263G>T
ENST00000705254.1:c.400G>T	ENSP00000516106.1:p.Asp134Tyr
ENST00000705255.1:n.1419G>T
ENST00000705256.1:c.850G>T	ENSP00000516107.1:p.Asp284Tyr
ENST00000366847.9:c.853G>T MANE Select	ENSP00000355812.3:p.Asp285Tyr
ENST00000349556.4:c.793G>T	ENSP00000230248.6:p.Asp265Tyr
ENST00000366847.8:c.853G>T	ENSP00000355812.3:p.Asp285Tyr
ENST00000488525.1:n.39G>T
ENST00000496181.1:n.257G>T
ENST00000622353.4:c.712G>T	ENSP00000479115.1:p.Asp238Tyr
NM_001278690.1:c.712G>T	NP_001265619.1:p.Asp238Tyr
NM_007045.3:c.853G>T	NP_008976.1:p.Asp285Tyr
NM_194429.2:c.793G>T	NP_919410.1:p.Asp265Tyr
NM_007045.4:c.853G>T MANE Select	NP_008976.1:p.Asp285Tyr
NM_194429.3:c.793G>T	NP_919410.1:p.Asp265Tyr
NM_001278690.2:c.712G>T	NP_001265619.1:p.Asp238Tyr