Canonical Allele Identifier: CA366409870

Gene: CEP43

Linked Data

• dbSNP Id: rs1780317643
• MyVariant Identifiers: chr6:g.167438299G>A (hg19) ; chr6:g.167024811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024811G>A , CM000668.2:g.167024811G>A	GRCh38
NC_000006.11:g.167438299G>A , CM000668.1:g.167438299G>A	GRCh37
NC_000006.10:g.167358289G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.776G>A	ENSP00000230248.6:p.Ser259Asn
ENST00000488525.2:c.832G>A	ENSP00000516042.1:p.Val278Ile
ENST00000609590.2:n.1708G>A
ENST00000704900.1:c.413G>A	ENSP00000516059.1:p.Ser138Asn
ENST00000704901.1:c.*423G>A	ENSP00000516060.1:n.*423G>A
ENST00000704959.1:n.1101G>A
ENST00000704982.1:n.1546G>A
ENST00000704985.1:n.1942G>A
ENST00000704986.1:n.1942G>A
ENST00000705029.1:n.1667G>A
ENST00000705059.1:n.1491G>A
ENST00000705168.1:c.89G>A	ENSP00000516071.1:p.Ser30Asn
ENST00000705169.1:c.89G>A	ENSP00000516072.1:p.Ser30Asn
ENST00000705170.1:c.89G>A	ENSP00000516073.1:p.Ser30Asn
ENST00000705171.1:n.881G>A
ENST00000705173.1:c.*145G>A	ENSP00000516075.1:n.*145G>A
ENST00000705175.1:c.962G>A	ENSP00000516077.1:p.Ser321Asn
ENST00000705176.1:c.1022G>A	ENSP00000516078.1:p.Ser341Asn
ENST00000705177.1:c.*420G>A	ENSP00000516079.1:n.*420G>A
ENST00000705178.1:c.359G>A	ENSP00000516080.1:p.Ser120Asn
ENST00000705179.1:c.554G>A	ENSP00000516081.1:p.Ser185Asn
ENST00000705180.1:c.494G>A	ENSP00000516082.1:p.Ser165Asn
ENST00000705235.1:c.836G>A	ENSP00000516093.1:p.Ser279Asn
ENST00000705236.1:c.776G>A	ENSP00000516094.1:p.Ser259Asn
ENST00000705237.1:c.494G>A	ENSP00000516095.1:p.Ser165Asn
ENST00000705238.1:c.695G>A	ENSP00000516096.1:p.Ser232Asn
ENST00000705239.1:c.773G>A	ENSP00000516097.1:p.Ser258Asn
ENST00000705240.1:c.*445G>A	ENSP00000516098.1:n.*445G>A
ENST00000705241.1:c.772G>A	ENSP00000516099.1:p.Val258Ile
ENST00000705242.1:c.773G>A	ENSP00000516100.1:p.Ser258Asn
ENST00000705249.1:c.776G>A	ENSP00000516101.1:p.Ser259Asn
ENST00000705250.1:c.554G>A	ENSP00000516102.1:p.Ser185Asn
ENST00000705251.1:c.*423G>A	ENSP00000516103.1:n.*423G>A
ENST00000705252.1:c.*246G>A	ENSP00000516104.1:n.*246G>A
ENST00000705253.1:c.*246G>A	ENSP00000516105.1:n.*246G>A
ENST00000705254.1:c.383G>A	ENSP00000516106.1:p.Ser128Asn
ENST00000705255.1:n.1402G>A
ENST00000705256.1:c.833G>A	ENSP00000516107.1:p.Ser278Asn
ENST00000366847.9:c.836G>A MANE Select	ENSP00000355812.3:p.Ser279Asn
ENST00000349556.4:c.776G>A	ENSP00000230248.6:p.Ser259Asn
ENST00000366847.8:c.836G>A	ENSP00000355812.3:p.Ser279Asn
ENST00000488525.1:n.22G>A
ENST00000496181.1:n.240G>A
ENST00000622353.4:c.695G>A	ENSP00000479115.1:p.Ser232Asn
NM_001278690.1:c.695G>A	NP_001265619.1:p.Ser232Asn
NM_007045.3:c.836G>A	NP_008976.1:p.Ser279Asn
NM_194429.2:c.776G>A	NP_919410.1:p.Ser259Asn
NM_007045.4:c.836G>A MANE Select	NP_008976.1:p.Ser279Asn
NM_194429.3:c.776G>A	NP_919410.1:p.Ser259Asn
NM_001278690.2:c.695G>A	NP_001265619.1:p.Ser232Asn