Canonical Allele Identifier: CA366409847

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438288G>C (hg19) ; chr6:g.167024800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024800G>C , CM000668.2:g.167024800G>C	GRCh38
NC_000006.11:g.167438288G>C , CM000668.1:g.167438288G>C	GRCh37
NC_000006.10:g.167358278G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.765G>C	ENSP00000230248.6:p.Lys255Asn
ENST00000488525.2:c.821G>C	ENSP00000516042.1:p.Ser274Thr
ENST00000609590.2:n.1697G>C
ENST00000704900.1:c.402G>C	ENSP00000516059.1:p.Lys134Asn
ENST00000704901.1:c.*412G>C	ENSP00000516060.1:n.*412G>C
ENST00000704959.1:n.1090G>C
ENST00000704982.1:n.1535G>C
ENST00000704985.1:n.1931G>C
ENST00000704986.1:n.1931G>C
ENST00000705029.1:n.1656G>C
ENST00000705059.1:n.1480G>C
ENST00000705168.1:c.78G>C	ENSP00000516071.1:p.Lys26Asn
ENST00000705169.1:c.78G>C	ENSP00000516072.1:p.Lys26Asn
ENST00000705170.1:c.78G>C	ENSP00000516073.1:p.Lys26Asn
ENST00000705171.1:n.870G>C
ENST00000705173.1:c.*134G>C	ENSP00000516075.1:n.*134G>C
ENST00000705175.1:c.951G>C	ENSP00000516077.1:p.Lys317Asn
ENST00000705176.1:c.1011G>C	ENSP00000516078.1:p.Lys337Asn
ENST00000705177.1:c.*409G>C	ENSP00000516079.1:n.*409G>C
ENST00000705178.1:c.348G>C	ENSP00000516080.1:p.Lys116Asn
ENST00000705179.1:c.543G>C	ENSP00000516081.1:p.Lys181Asn
ENST00000705180.1:c.483G>C	ENSP00000516082.1:p.Lys161Asn
ENST00000705235.1:c.825G>C	ENSP00000516093.1:p.Lys275Asn
ENST00000705236.1:c.765G>C	ENSP00000516094.1:p.Lys255Asn
ENST00000705237.1:c.483G>C	ENSP00000516095.1:p.Lys161Asn
ENST00000705238.1:c.684G>C	ENSP00000516096.1:p.Lys228Asn
ENST00000705239.1:c.762G>C	ENSP00000516097.1:p.Lys254Asn
ENST00000705240.1:c.*434G>C	ENSP00000516098.1:n.*434G>C
ENST00000705241.1:c.761G>C	ENSP00000516099.1:p.Ser254Thr
ENST00000705242.1:c.762G>C	ENSP00000516100.1:p.Lys254Asn
ENST00000705249.1:c.765G>C	ENSP00000516101.1:p.Lys255Asn
ENST00000705250.1:c.543G>C	ENSP00000516102.1:p.Lys181Asn
ENST00000705251.1:c.*412G>C	ENSP00000516103.1:n.*412G>C
ENST00000705252.1:c.*235G>C	ENSP00000516104.1:n.*235G>C
ENST00000705253.1:c.*235G>C	ENSP00000516105.1:n.*235G>C
ENST00000705254.1:c.372G>C	ENSP00000516106.1:p.Lys124Asn
ENST00000705255.1:n.1391G>C
ENST00000705256.1:c.822G>C	ENSP00000516107.1:p.Lys274Asn
ENST00000366847.9:c.825G>C MANE Select	ENSP00000355812.3:p.Lys275Asn
ENST00000349556.4:c.765G>C	ENSP00000230248.6:p.Lys255Asn
ENST00000366847.8:c.825G>C	ENSP00000355812.3:p.Lys275Asn
ENST00000488525.1:n.11G>C
ENST00000496181.1:n.229G>C
ENST00000622353.4:c.684G>C	ENSP00000479115.1:p.Lys228Asn
NM_001278690.1:c.684G>C	NP_001265619.1:p.Lys228Asn
NM_007045.3:c.825G>C	NP_008976.1:p.Lys275Asn
NM_194429.2:c.765G>C	NP_919410.1:p.Lys255Asn
NM_007045.4:c.825G>C MANE Select	NP_008976.1:p.Lys275Asn
NM_194429.3:c.765G>C	NP_919410.1:p.Lys255Asn
NM_001278690.2:c.684G>C	NP_001265619.1:p.Lys228Asn