Canonical Allele Identifier: CA366409820

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438276G>C (hg19) ; chr6:g.167024788G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024788G>C , CM000668.2:g.167024788G>C	GRCh38
NC_000006.11:g.167438276G>C , CM000668.1:g.167438276G>C	GRCh37
NC_000006.10:g.167358266G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.753G>C	ENSP00000230248.6:p.Lys251Asn
ENST00000488525.2:c.809G>C	ENSP00000516042.1:p.Arg270Thr
ENST00000609590.2:n.1685G>C
ENST00000704900.1:c.390G>C	ENSP00000516059.1:p.Lys130Asn
ENST00000704901.1:c.*400G>C	ENSP00000516060.1:n.*400G>C
ENST00000704959.1:n.1078G>C
ENST00000704982.1:n.1523G>C
ENST00000704985.1:n.1919G>C
ENST00000704986.1:n.1919G>C
ENST00000705029.1:n.1644G>C
ENST00000705059.1:n.1468G>C
ENST00000705168.1:c.66G>C	ENSP00000516071.1:p.Lys22Asn
ENST00000705169.1:c.66G>C	ENSP00000516072.1:p.Lys22Asn
ENST00000705170.1:c.66G>C	ENSP00000516073.1:p.Lys22Asn
ENST00000705171.1:n.858G>C
ENST00000705173.1:c.*122G>C	ENSP00000516075.1:n.*122G>C
ENST00000705175.1:c.939G>C	ENSP00000516077.1:p.Lys313Asn
ENST00000705176.1:c.999G>C	ENSP00000516078.1:p.Lys333Asn
ENST00000705177.1:c.*397G>C	ENSP00000516079.1:n.*397G>C
ENST00000705178.1:c.336G>C	ENSP00000516080.1:p.Lys112Asn
ENST00000705179.1:c.531G>C	ENSP00000516081.1:p.Lys177Asn
ENST00000705180.1:c.471G>C	ENSP00000516082.1:p.Lys157Asn
ENST00000705235.1:c.813G>C	ENSP00000516093.1:p.Lys271Asn
ENST00000705236.1:c.753G>C	ENSP00000516094.1:p.Lys251Asn
ENST00000705237.1:c.471G>C	ENSP00000516095.1:p.Lys157Asn
ENST00000705238.1:c.672G>C	ENSP00000516096.1:p.Lys224Asn
ENST00000705239.1:c.750G>C	ENSP00000516097.1:p.Lys250Asn
ENST00000705240.1:c.*422G>C	ENSP00000516098.1:n.*422G>C
ENST00000705241.1:c.749G>C	ENSP00000516099.1:p.Arg250Thr
ENST00000705242.1:c.750G>C	ENSP00000516100.1:p.Lys250Asn
ENST00000705249.1:c.753G>C	ENSP00000516101.1:p.Lys251Asn
ENST00000705250.1:c.531G>C	ENSP00000516102.1:p.Lys177Asn
ENST00000705251.1:c.*400G>C	ENSP00000516103.1:n.*400G>C
ENST00000705252.1:c.*223G>C	ENSP00000516104.1:n.*223G>C
ENST00000705253.1:c.*223G>C	ENSP00000516105.1:n.*223G>C
ENST00000705254.1:c.360G>C	ENSP00000516106.1:p.Lys120Asn
ENST00000705255.1:n.1379G>C
ENST00000705256.1:c.810G>C	ENSP00000516107.1:p.Lys270Asn
ENST00000366847.9:c.813G>C MANE Select	ENSP00000355812.3:p.Lys271Asn
ENST00000349556.4:c.753G>C	ENSP00000230248.6:p.Lys251Asn
ENST00000366847.8:c.813G>C	ENSP00000355812.3:p.Lys271Asn
ENST00000496181.1:n.217G>C
ENST00000622353.4:c.672G>C	ENSP00000479115.1:p.Lys224Asn
NM_001278690.1:c.672G>C	NP_001265619.1:p.Lys224Asn
NM_007045.3:c.813G>C	NP_008976.1:p.Lys271Asn
NM_194429.2:c.753G>C	NP_919410.1:p.Lys251Asn
NM_007045.4:c.813G>C MANE Select	NP_008976.1:p.Lys271Asn
NM_194429.3:c.753G>C	NP_919410.1:p.Lys251Asn
NM_001278690.2:c.672G>C	NP_001265619.1:p.Lys224Asn