Canonical Allele Identifier: CA366409880

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438304G>A (hg19) ; chr6:g.167024816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024816G>A , CM000668.2:g.167024816G>A	GRCh38
NC_000006.11:g.167438304G>A , CM000668.1:g.167438304G>A	GRCh37
NC_000006.10:g.167358294G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.781G>A	ENSP00000230248.6:p.Ala261Thr
ENST00000488525.2:c.837G>A	ENSP00000516042.1:p.Trp279Ter
ENST00000609590.2:n.1713G>A
ENST00000704900.1:c.418G>A	ENSP00000516059.1:p.Ala140Thr
ENST00000704901.1:c.*428G>A	ENSP00000516060.1:n.*428G>A
ENST00000704959.1:n.1106G>A
ENST00000704982.1:n.1551G>A
ENST00000704985.1:n.1947G>A
ENST00000704986.1:n.1947G>A
ENST00000705029.1:n.1672G>A
ENST00000705059.1:n.1496G>A
ENST00000705168.1:c.94G>A	ENSP00000516071.1:p.Ala32Thr
ENST00000705169.1:c.94G>A	ENSP00000516072.1:p.Ala32Thr
ENST00000705170.1:c.94G>A	ENSP00000516073.1:p.Ala32Thr
ENST00000705171.1:n.886G>A
ENST00000705173.1:c.*150G>A	ENSP00000516075.1:n.*150G>A
ENST00000705175.1:c.967G>A	ENSP00000516077.1:p.Ala323Thr
ENST00000705176.1:c.1027G>A	ENSP00000516078.1:p.Ala343Thr
ENST00000705177.1:c.*425G>A	ENSP00000516079.1:n.*425G>A
ENST00000705178.1:c.364G>A	ENSP00000516080.1:p.Ala122Thr
ENST00000705179.1:c.559G>A	ENSP00000516081.1:p.Ala187Thr
ENST00000705180.1:c.499G>A	ENSP00000516082.1:p.Ala167Thr
ENST00000705235.1:c.841G>A	ENSP00000516093.1:p.Ala281Thr
ENST00000705236.1:c.781G>A	ENSP00000516094.1:p.Ala261Thr
ENST00000705237.1:c.499G>A	ENSP00000516095.1:p.Ala167Thr
ENST00000705238.1:c.700G>A	ENSP00000516096.1:p.Ala234Thr
ENST00000705239.1:c.778G>A	ENSP00000516097.1:p.Ala260Thr
ENST00000705240.1:c.*450G>A	ENSP00000516098.1:n.*450G>A
ENST00000705241.1:c.777G>A	ENSP00000516099.1:p.Trp259Ter
ENST00000705242.1:c.778G>A	ENSP00000516100.1:p.Ala260Thr
ENST00000705249.1:c.781G>A	ENSP00000516101.1:p.Ala261Thr
ENST00000705250.1:c.559G>A	ENSP00000516102.1:p.Ala187Thr
ENST00000705251.1:c.*428G>A	ENSP00000516103.1:n.*428G>A
ENST00000705252.1:c.*251G>A	ENSP00000516104.1:n.*251G>A
ENST00000705253.1:c.*251G>A	ENSP00000516105.1:n.*251G>A
ENST00000705254.1:c.388G>A	ENSP00000516106.1:p.Ala130Thr
ENST00000705255.1:n.1407G>A
ENST00000705256.1:c.838G>A	ENSP00000516107.1:p.Ala280Thr
ENST00000366847.9:c.841G>A MANE Select	ENSP00000355812.3:p.Ala281Thr
ENST00000349556.4:c.781G>A	ENSP00000230248.6:p.Ala261Thr
ENST00000366847.8:c.841G>A	ENSP00000355812.3:p.Ala281Thr
ENST00000488525.1:n.27G>A
ENST00000496181.1:n.245G>A
ENST00000622353.4:c.700G>A	ENSP00000479115.1:p.Ala234Thr
NM_001278690.1:c.700G>A	NP_001265619.1:p.Ala234Thr
NM_007045.3:c.841G>A	NP_008976.1:p.Ala281Thr
NM_194429.2:c.781G>A	NP_919410.1:p.Ala261Thr
NM_007045.4:c.841G>A MANE Select	NP_008976.1:p.Ala281Thr
NM_194429.3:c.781G>A	NP_919410.1:p.Ala261Thr
NM_001278690.2:c.700G>A	NP_001265619.1:p.Ala234Thr