Canonical Allele Identifier: CA366410017

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438372A>T (hg19) ; chr6:g.167024884A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024884A>T , CM000668.2:g.167024884A>T	GRCh38
NC_000006.11:g.167438372A>T , CM000668.1:g.167438372A>T	GRCh37
NC_000006.10:g.167358362A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.849A>T	ENSP00000230248.6:p.Lys283Asn
ENST00000488525.2:c.*41A>T	ENSP00000516042.1:n.*41A>T
ENST00000609590.2:n.1781A>T
ENST00000704900.1:c.486A>T	ENSP00000516059.1:p.Lys162Asn
ENST00000704901.1:c.*496A>T	ENSP00000516060.1:n.*496A>T
ENST00000704959.1:n.1174A>T
ENST00000704982.1:n.1619A>T
ENST00000704985.1:n.2015A>T
ENST00000704986.1:n.2015A>T
ENST00000705029.1:n.1740A>T
ENST00000705059.1:n.1564A>T
ENST00000705168.1:c.162A>T	ENSP00000516071.1:p.Lys54Asn
ENST00000705169.1:c.162A>T	ENSP00000516072.1:p.Lys54Asn
ENST00000705170.1:c.162A>T	ENSP00000516073.1:p.Lys54Asn
ENST00000705171.1:n.954A>T
ENST00000705173.1:c.*218A>T	ENSP00000516075.1:n.*218A>T
ENST00000705175.1:c.1035A>T	ENSP00000516077.1:p.Lys345Asn
ENST00000705176.1:c.1095A>T	ENSP00000516078.1:p.Lys365Asn
ENST00000705177.1:c.*493A>T	ENSP00000516079.1:n.*493A>T
ENST00000705178.1:c.432A>T	ENSP00000516080.1:p.Lys144Asn
ENST00000705179.1:c.627A>T	ENSP00000516081.1:p.Lys209Asn
ENST00000705180.1:c.567A>T	ENSP00000516082.1:p.Lys189Asn
ENST00000705235.1:c.909A>T	ENSP00000516093.1:p.Lys303Asn
ENST00000705236.1:c.849A>T	ENSP00000516094.1:p.Lys283Asn
ENST00000705237.1:c.567A>T	ENSP00000516095.1:p.Lys189Asn
ENST00000705238.1:c.768A>T	ENSP00000516096.1:p.Lys256Asn
ENST00000705239.1:c.846A>T	ENSP00000516097.1:p.Lys282Asn
ENST00000705240.1:c.*518A>T	ENSP00000516098.1:n.*518A>T
ENST00000705241.1:c.*41A>T	ENSP00000516099.1:n.*41A>T
ENST00000705242.1:c.846A>T	ENSP00000516100.1:p.Lys282Asn
ENST00000705249.1:c.849A>T	ENSP00000516101.1:p.Lys283Asn
ENST00000705250.1:c.627A>T	ENSP00000516102.1:p.Lys209Asn
ENST00000705251.1:c.*496A>T	ENSP00000516103.1:n.*496A>T
ENST00000705252.1:c.*319A>T	ENSP00000516104.1:n.*319A>T
ENST00000705253.1:c.*319A>T	ENSP00000516105.1:n.*319A>T
ENST00000705254.1:c.456A>T	ENSP00000516106.1:p.Lys152Asn
ENST00000705255.1:n.1475A>T
ENST00000705256.1:c.906A>T	ENSP00000516107.1:p.Lys302Asn
ENST00000366847.9:c.909A>T MANE Select	ENSP00000355812.3:p.Lys303Asn
ENST00000349556.4:c.849A>T	ENSP00000230248.6:p.Lys283Asn
ENST00000366847.8:c.909A>T	ENSP00000355812.3:p.Lys303Asn
ENST00000488525.1:n.95A>T
ENST00000496181.1:n.313A>T
ENST00000622353.4:c.768A>T	ENSP00000479115.1:p.Lys256Asn
NM_001278690.1:c.768A>T	NP_001265619.1:p.Lys256Asn
NM_007045.3:c.909A>T	NP_008976.1:p.Lys303Asn
NM_194429.2:c.849A>T	NP_919410.1:p.Lys283Asn
NM_007045.4:c.909A>T MANE Select	NP_008976.1:p.Lys303Asn
NM_194429.3:c.849A>T	NP_919410.1:p.Lys283Asn
NM_001278690.2:c.768A>T	NP_001265619.1:p.Lys256Asn