Canonical Allele Identifier: CA366409969

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438346T>G (hg19) ; chr6:g.167024858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024858T>G , CM000668.2:g.167024858T>G	GRCh38
NC_000006.11:g.167438346T>G , CM000668.1:g.167438346T>G	GRCh37
NC_000006.10:g.167358336T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.823T>G	ENSP00000230248.6:p.Ser275Ala
ENST00000488525.2:c.*15T>G	ENSP00000516042.1:n.*15T>G
ENST00000609590.2:n.1755T>G
ENST00000704900.1:c.460T>G	ENSP00000516059.1:p.Ser154Ala
ENST00000704901.1:c.*470T>G	ENSP00000516060.1:n.*470T>G
ENST00000704959.1:n.1148T>G
ENST00000704982.1:n.1593T>G
ENST00000704985.1:n.1989T>G
ENST00000704986.1:n.1989T>G
ENST00000705029.1:n.1714T>G
ENST00000705059.1:n.1538T>G
ENST00000705168.1:c.136T>G	ENSP00000516071.1:p.Ser46Ala
ENST00000705169.1:c.136T>G	ENSP00000516072.1:p.Ser46Ala
ENST00000705170.1:c.136T>G	ENSP00000516073.1:p.Ser46Ala
ENST00000705171.1:n.928T>G
ENST00000705173.1:c.*192T>G	ENSP00000516075.1:n.*192T>G
ENST00000705175.1:c.1009T>G	ENSP00000516077.1:p.Ser337Ala
ENST00000705176.1:c.1069T>G	ENSP00000516078.1:p.Ser357Ala
ENST00000705177.1:c.*467T>G	ENSP00000516079.1:n.*467T>G
ENST00000705178.1:c.406T>G	ENSP00000516080.1:p.Ser136Ala
ENST00000705179.1:c.601T>G	ENSP00000516081.1:p.Ser201Ala
ENST00000705180.1:c.541T>G	ENSP00000516082.1:p.Ser181Ala
ENST00000705235.1:c.883T>G	ENSP00000516093.1:p.Ser295Ala
ENST00000705236.1:c.823T>G	ENSP00000516094.1:p.Ser275Ala
ENST00000705237.1:c.541T>G	ENSP00000516095.1:p.Ser181Ala
ENST00000705238.1:c.742T>G	ENSP00000516096.1:p.Ser248Ala
ENST00000705239.1:c.820T>G	ENSP00000516097.1:p.Ser274Ala
ENST00000705240.1:c.*492T>G	ENSP00000516098.1:n.*492T>G
ENST00000705241.1:c.*15T>G	ENSP00000516099.1:n.*15T>G
ENST00000705242.1:c.820T>G	ENSP00000516100.1:p.Ser274Ala
ENST00000705249.1:c.823T>G	ENSP00000516101.1:p.Ser275Ala
ENST00000705250.1:c.601T>G	ENSP00000516102.1:p.Ser201Ala
ENST00000705251.1:c.*470T>G	ENSP00000516103.1:n.*470T>G
ENST00000705252.1:c.*293T>G	ENSP00000516104.1:n.*293T>G
ENST00000705253.1:c.*293T>G	ENSP00000516105.1:n.*293T>G
ENST00000705254.1:c.430T>G	ENSP00000516106.1:p.Ser144Ala
ENST00000705255.1:n.1449T>G
ENST00000705256.1:c.880T>G	ENSP00000516107.1:p.Ser294Ala
ENST00000366847.9:c.883T>G MANE Select	ENSP00000355812.3:p.Ser295Ala
ENST00000349556.4:c.823T>G	ENSP00000230248.6:p.Ser275Ala
ENST00000366847.8:c.883T>G	ENSP00000355812.3:p.Ser295Ala
ENST00000488525.1:n.69T>G
ENST00000496181.1:n.287T>G
ENST00000622353.4:c.742T>G	ENSP00000479115.1:p.Ser248Ala
NM_001278690.1:c.742T>G	NP_001265619.1:p.Ser248Ala
NM_007045.3:c.883T>G	NP_008976.1:p.Ser295Ala
NM_194429.2:c.823T>G	NP_919410.1:p.Ser275Ala
NM_007045.4:c.883T>G MANE Select	NP_008976.1:p.Ser295Ala
NM_194429.3:c.823T>G	NP_919410.1:p.Ser275Ala
NM_001278690.2:c.742T>G	NP_001265619.1:p.Ser248Ala