Canonical Allele Identifier: CA366409905

Gene: CEP43

Linked Data

• dbSNP Id: rs1203334820
• MyVariant Identifiers: chr6:g.167438317A>T (hg19) ; chr6:g.167024829A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024829A>T , CM000668.2:g.167024829A>T	GRCh38
NC_000006.11:g.167438317A>T , CM000668.1:g.167438317A>T	GRCh37
NC_000006.10:g.167358307A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.794A>T	ENSP00000230248.6:p.Asp265Val
ENST00000488525.2:c.850A>T	ENSP00000516042.1:p.Met284Leu
ENST00000609590.2:n.1726A>T
ENST00000704900.1:c.431A>T	ENSP00000516059.1:p.Asp144Val
ENST00000704901.1:c.*441A>T	ENSP00000516060.1:n.*441A>T
ENST00000704959.1:n.1119A>T
ENST00000704982.1:n.1564A>T
ENST00000704985.1:n.1960A>T
ENST00000704986.1:n.1960A>T
ENST00000705029.1:n.1685A>T
ENST00000705059.1:n.1509A>T
ENST00000705168.1:c.107A>T	ENSP00000516071.1:p.Asp36Val
ENST00000705169.1:c.107A>T	ENSP00000516072.1:p.Asp36Val
ENST00000705170.1:c.107A>T	ENSP00000516073.1:p.Asp36Val
ENST00000705171.1:n.899A>T
ENST00000705173.1:c.*163A>T	ENSP00000516075.1:n.*163A>T
ENST00000705175.1:c.980A>T	ENSP00000516077.1:p.Asp327Val
ENST00000705176.1:c.1040A>T	ENSP00000516078.1:p.Asp347Val
ENST00000705177.1:c.*438A>T	ENSP00000516079.1:n.*438A>T
ENST00000705178.1:c.377A>T	ENSP00000516080.1:p.Asp126Val
ENST00000705179.1:c.572A>T	ENSP00000516081.1:p.Asp191Val
ENST00000705180.1:c.512A>T	ENSP00000516082.1:p.Asp171Val
ENST00000705235.1:c.854A>T	ENSP00000516093.1:p.Asp285Val
ENST00000705236.1:c.794A>T	ENSP00000516094.1:p.Asp265Val
ENST00000705237.1:c.512A>T	ENSP00000516095.1:p.Asp171Val
ENST00000705238.1:c.713A>T	ENSP00000516096.1:p.Asp238Val
ENST00000705239.1:c.791A>T	ENSP00000516097.1:p.Asp264Val
ENST00000705240.1:c.*463A>T	ENSP00000516098.1:n.*463A>T
ENST00000705241.1:c.790A>T	ENSP00000516099.1:p.Met264Leu
ENST00000705242.1:c.791A>T	ENSP00000516100.1:p.Asp264Val
ENST00000705249.1:c.794A>T	ENSP00000516101.1:p.Asp265Val
ENST00000705250.1:c.572A>T	ENSP00000516102.1:p.Asp191Val
ENST00000705251.1:c.*441A>T	ENSP00000516103.1:n.*441A>T
ENST00000705252.1:c.*264A>T	ENSP00000516104.1:n.*264A>T
ENST00000705253.1:c.*264A>T	ENSP00000516105.1:n.*264A>T
ENST00000705254.1:c.401A>T	ENSP00000516106.1:p.Asp134Val
ENST00000705255.1:n.1420A>T
ENST00000705256.1:c.851A>T	ENSP00000516107.1:p.Asp284Val
ENST00000366847.9:c.854A>T MANE Select	ENSP00000355812.3:p.Asp285Val
ENST00000349556.4:c.794A>T	ENSP00000230248.6:p.Asp265Val
ENST00000366847.8:c.854A>T	ENSP00000355812.3:p.Asp285Val
ENST00000488525.1:n.40A>T
ENST00000496181.1:n.258A>T
ENST00000622353.4:c.713A>T	ENSP00000479115.1:p.Asp238Val
NM_001278690.1:c.713A>T	NP_001265619.1:p.Asp238Val
NM_007045.3:c.854A>T	NP_008976.1:p.Asp285Val
NM_194429.2:c.794A>T	NP_919410.1:p.Asp265Val
NM_007045.4:c.854A>T MANE Select	NP_008976.1:p.Asp285Val
NM_194429.3:c.794A>T	NP_919410.1:p.Asp265Val
NM_001278690.2:c.713A>T	NP_001265619.1:p.Asp238Val