Canonical Allele Identifier: CA366409980

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438352G>C (hg19) ; chr6:g.167024864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024864G>C , CM000668.2:g.167024864G>C	GRCh38
NC_000006.11:g.167438352G>C , CM000668.1:g.167438352G>C	GRCh37
NC_000006.10:g.167358342G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.829G>C	ENSP00000230248.6:p.Ala277Pro
ENST00000488525.2:c.*21G>C	ENSP00000516042.1:n.*21G>C
ENST00000609590.2:n.1761G>C
ENST00000704900.1:c.466G>C	ENSP00000516059.1:p.Ala156Pro
ENST00000704901.1:c.*476G>C	ENSP00000516060.1:n.*476G>C
ENST00000704959.1:n.1154G>C
ENST00000704982.1:n.1599G>C
ENST00000704985.1:n.1995G>C
ENST00000704986.1:n.1995G>C
ENST00000705029.1:n.1720G>C
ENST00000705059.1:n.1544G>C
ENST00000705168.1:c.142G>C	ENSP00000516071.1:p.Ala48Pro
ENST00000705169.1:c.142G>C	ENSP00000516072.1:p.Ala48Pro
ENST00000705170.1:c.142G>C	ENSP00000516073.1:p.Ala48Pro
ENST00000705171.1:n.934G>C
ENST00000705173.1:c.*198G>C	ENSP00000516075.1:n.*198G>C
ENST00000705175.1:c.1015G>C	ENSP00000516077.1:p.Ala339Pro
ENST00000705176.1:c.1075G>C	ENSP00000516078.1:p.Ala359Pro
ENST00000705177.1:c.*473G>C	ENSP00000516079.1:n.*473G>C
ENST00000705178.1:c.412G>C	ENSP00000516080.1:p.Ala138Pro
ENST00000705179.1:c.607G>C	ENSP00000516081.1:p.Ala203Pro
ENST00000705180.1:c.547G>C	ENSP00000516082.1:p.Ala183Pro
ENST00000705235.1:c.889G>C	ENSP00000516093.1:p.Ala297Pro
ENST00000705236.1:c.829G>C	ENSP00000516094.1:p.Ala277Pro
ENST00000705237.1:c.547G>C	ENSP00000516095.1:p.Ala183Pro
ENST00000705238.1:c.748G>C	ENSP00000516096.1:p.Ala250Pro
ENST00000705239.1:c.826G>C	ENSP00000516097.1:p.Ala276Pro
ENST00000705240.1:c.*498G>C	ENSP00000516098.1:n.*498G>C
ENST00000705241.1:c.*21G>C	ENSP00000516099.1:n.*21G>C
ENST00000705242.1:c.826G>C	ENSP00000516100.1:p.Ala276Pro
ENST00000705249.1:c.829G>C	ENSP00000516101.1:p.Ala277Pro
ENST00000705250.1:c.607G>C	ENSP00000516102.1:p.Ala203Pro
ENST00000705251.1:c.*476G>C	ENSP00000516103.1:n.*476G>C
ENST00000705252.1:c.*299G>C	ENSP00000516104.1:n.*299G>C
ENST00000705253.1:c.*299G>C	ENSP00000516105.1:n.*299G>C
ENST00000705254.1:c.436G>C	ENSP00000516106.1:p.Ala146Pro
ENST00000705255.1:n.1455G>C
ENST00000705256.1:c.886G>C	ENSP00000516107.1:p.Ala296Pro
ENST00000366847.9:c.889G>C MANE Select	ENSP00000355812.3:p.Ala297Pro
ENST00000349556.4:c.829G>C	ENSP00000230248.6:p.Ala277Pro
ENST00000366847.8:c.889G>C	ENSP00000355812.3:p.Ala297Pro
ENST00000488525.1:n.75G>C
ENST00000496181.1:n.293G>C
ENST00000622353.4:c.748G>C	ENSP00000479115.1:p.Ala250Pro
NM_001278690.1:c.748G>C	NP_001265619.1:p.Ala250Pro
NM_007045.3:c.889G>C	NP_008976.1:p.Ala297Pro
NM_194429.2:c.829G>C	NP_919410.1:p.Ala277Pro
NM_007045.4:c.889G>C MANE Select	NP_008976.1:p.Ala297Pro
NM_194429.3:c.829G>C	NP_919410.1:p.Ala277Pro
NM_001278690.2:c.748G>C	NP_001265619.1:p.Ala250Pro