Canonical Allele Identifier: CA453081491

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438367T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024879T>C , CM000668.2:g.167024879T>C	GRCh38
NC_000006.11:g.167438367T>C , CM000668.1:g.167438367T>C	GRCh37
NC_000006.10:g.167358357T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.844T>C	ENSP00000230248.6:p.Leu282=
ENST00000488525.2:c.*36T>C	ENSP00000516042.1:n.*36T>C
ENST00000609590.2:n.1776T>C
ENST00000704900.1:c.481T>C	ENSP00000516059.1:p.Leu161=
ENST00000704901.1:c.*491T>C	ENSP00000516060.1:n.*491T>C
ENST00000704959.1:n.1169T>C
ENST00000704982.1:n.1614T>C
ENST00000704985.1:n.2010T>C
ENST00000704986.1:n.2010T>C
ENST00000705029.1:n.1735T>C
ENST00000705059.1:n.1559T>C
ENST00000705168.1:c.157T>C	ENSP00000516071.1:p.Leu53=
ENST00000705169.1:c.157T>C	ENSP00000516072.1:p.Leu53=
ENST00000705170.1:c.157T>C	ENSP00000516073.1:p.Leu53=
ENST00000705171.1:n.949T>C
ENST00000705173.1:c.*213T>C	ENSP00000516075.1:n.*213T>C
ENST00000705175.1:c.1030T>C	ENSP00000516077.1:p.Leu344=
ENST00000705176.1:c.1090T>C	ENSP00000516078.1:p.Leu364=
ENST00000705177.1:c.*488T>C	ENSP00000516079.1:n.*488T>C
ENST00000705178.1:c.427T>C	ENSP00000516080.1:p.Leu143=
ENST00000705179.1:c.622T>C	ENSP00000516081.1:p.Leu208=
ENST00000705180.1:c.562T>C	ENSP00000516082.1:p.Leu188=
ENST00000705235.1:c.904T>C	ENSP00000516093.1:p.Leu302=
ENST00000705236.1:c.844T>C	ENSP00000516094.1:p.Leu282=
ENST00000705237.1:c.562T>C	ENSP00000516095.1:p.Leu188=
ENST00000705238.1:c.763T>C	ENSP00000516096.1:p.Leu255=
ENST00000705239.1:c.841T>C	ENSP00000516097.1:p.Leu281=
ENST00000705240.1:c.*513T>C	ENSP00000516098.1:n.*513T>C
ENST00000705241.1:c.*36T>C	ENSP00000516099.1:n.*36T>C
ENST00000705242.1:c.841T>C	ENSP00000516100.1:p.Leu281=
ENST00000705249.1:c.844T>C	ENSP00000516101.1:p.Leu282=
ENST00000705250.1:c.622T>C	ENSP00000516102.1:p.Leu208=
ENST00000705251.1:c.*491T>C	ENSP00000516103.1:n.*491T>C
ENST00000705252.1:c.*314T>C	ENSP00000516104.1:n.*314T>C
ENST00000705253.1:c.*314T>C	ENSP00000516105.1:n.*314T>C
ENST00000705254.1:c.451T>C	ENSP00000516106.1:p.Leu151=
ENST00000705255.1:n.1470T>C
ENST00000705256.1:c.901T>C	ENSP00000516107.1:p.Leu301=
ENST00000366847.9:c.904T>C MANE Select	ENSP00000355812.3:p.Leu302=
ENST00000349556.4:c.844T>C	ENSP00000230248.6:p.Leu282=
ENST00000366847.8:c.904T>C	ENSP00000355812.3:p.Leu302=
ENST00000488525.1:n.90T>C
ENST00000496181.1:n.308T>C
ENST00000622353.4:c.763T>C	ENSP00000479115.1:p.Leu255=
NM_001278690.1:c.763T>C	NP_001265619.1:p.Leu255=
NM_007045.3:c.904T>C	NP_008976.1:p.Leu302=
NM_194429.2:c.844T>C	NP_919410.1:p.Leu282=
NM_007045.4:c.904T>C MANE Select	NP_008976.1:p.Leu302=
NM_194429.3:c.844T>C	NP_919410.1:p.Leu282=
NM_001278690.2:c.763T>C	NP_001265619.1:p.Leu255=