Canonical Allele Identifier: CA366409856

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024804-G-A
• MyVariant Identifiers: chr6:g.167438292G>A (hg19) ; chr6:g.167024804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024804G>A , CM000668.2:g.167024804G>A	GRCh38
NC_000006.11:g.167438292G>A , CM000668.1:g.167438292G>A	GRCh37
NC_000006.10:g.167358282G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.769G>A	ENSP00000230248.6:p.Ala257Thr
ENST00000488525.2:c.825G>A	ENSP00000516042.1:p.Lys275=
ENST00000609590.2:n.1701G>A
ENST00000704900.1:c.406G>A	ENSP00000516059.1:p.Ala136Thr
ENST00000704901.1:c.*416G>A	ENSP00000516060.1:n.*416G>A
ENST00000704959.1:n.1094G>A
ENST00000704982.1:n.1539G>A
ENST00000704985.1:n.1935G>A
ENST00000704986.1:n.1935G>A
ENST00000705029.1:n.1660G>A
ENST00000705059.1:n.1484G>A
ENST00000705168.1:c.82G>A	ENSP00000516071.1:p.Ala28Thr
ENST00000705169.1:c.82G>A	ENSP00000516072.1:p.Ala28Thr
ENST00000705170.1:c.82G>A	ENSP00000516073.1:p.Ala28Thr
ENST00000705171.1:n.874G>A
ENST00000705173.1:c.*138G>A	ENSP00000516075.1:n.*138G>A
ENST00000705175.1:c.955G>A	ENSP00000516077.1:p.Ala319Thr
ENST00000705176.1:c.1015G>A	ENSP00000516078.1:p.Ala339Thr
ENST00000705177.1:c.*413G>A	ENSP00000516079.1:n.*413G>A
ENST00000705178.1:c.352G>A	ENSP00000516080.1:p.Ala118Thr
ENST00000705179.1:c.547G>A	ENSP00000516081.1:p.Ala183Thr
ENST00000705180.1:c.487G>A	ENSP00000516082.1:p.Ala163Thr
ENST00000705235.1:c.829G>A	ENSP00000516093.1:p.Ala277Thr
ENST00000705236.1:c.769G>A	ENSP00000516094.1:p.Ala257Thr
ENST00000705237.1:c.487G>A	ENSP00000516095.1:p.Ala163Thr
ENST00000705238.1:c.688G>A	ENSP00000516096.1:p.Ala230Thr
ENST00000705239.1:c.766G>A	ENSP00000516097.1:p.Ala256Thr
ENST00000705240.1:c.*438G>A	ENSP00000516098.1:n.*438G>A
ENST00000705241.1:c.765G>A	ENSP00000516099.1:p.Lys255=
ENST00000705242.1:c.766G>A	ENSP00000516100.1:p.Ala256Thr
ENST00000705249.1:c.769G>A	ENSP00000516101.1:p.Ala257Thr
ENST00000705250.1:c.547G>A	ENSP00000516102.1:p.Ala183Thr
ENST00000705251.1:c.*416G>A	ENSP00000516103.1:n.*416G>A
ENST00000705252.1:c.*239G>A	ENSP00000516104.1:n.*239G>A
ENST00000705253.1:c.*239G>A	ENSP00000516105.1:n.*239G>A
ENST00000705254.1:c.376G>A	ENSP00000516106.1:p.Ala126Thr
ENST00000705255.1:n.1395G>A
ENST00000705256.1:c.826G>A	ENSP00000516107.1:p.Ala276Thr
ENST00000366847.9:c.829G>A MANE Select	ENSP00000355812.3:p.Ala277Thr
ENST00000349556.4:c.769G>A	ENSP00000230248.6:p.Ala257Thr
ENST00000366847.8:c.829G>A	ENSP00000355812.3:p.Ala277Thr
ENST00000488525.1:n.15G>A
ENST00000496181.1:n.233G>A
ENST00000622353.4:c.688G>A	ENSP00000479115.1:p.Ala230Thr
NM_001278690.1:c.688G>A	NP_001265619.1:p.Ala230Thr
NM_007045.3:c.829G>A	NP_008976.1:p.Ala277Thr
NM_194429.2:c.769G>A	NP_919410.1:p.Ala257Thr
NM_007045.4:c.829G>A MANE Select	NP_008976.1:p.Ala277Thr
NM_194429.3:c.769G>A	NP_919410.1:p.Ala257Thr
NM_001278690.2:c.688G>A	NP_001265619.1:p.Ala230Thr