Canonical Allele Identifier: CA453081466

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438354G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024866G>C , CM000668.2:g.167024866G>C	GRCh38
NC_000006.11:g.167438354G>C , CM000668.1:g.167438354G>C	GRCh37
NC_000006.10:g.167358344G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.831G>C	ENSP00000230248.6:p.Ala277=
ENST00000488525.2:c.*23G>C	ENSP00000516042.1:n.*23G>C
ENST00000609590.2:n.1763G>C
ENST00000704900.1:c.468G>C	ENSP00000516059.1:p.Ala156=
ENST00000704901.1:c.*478G>C	ENSP00000516060.1:n.*478G>C
ENST00000704959.1:n.1156G>C
ENST00000704982.1:n.1601G>C
ENST00000704985.1:n.1997G>C
ENST00000704986.1:n.1997G>C
ENST00000705029.1:n.1722G>C
ENST00000705059.1:n.1546G>C
ENST00000705168.1:c.144G>C	ENSP00000516071.1:p.Ala48=
ENST00000705169.1:c.144G>C	ENSP00000516072.1:p.Ala48=
ENST00000705170.1:c.144G>C	ENSP00000516073.1:p.Ala48=
ENST00000705171.1:n.936G>C
ENST00000705173.1:c.*200G>C	ENSP00000516075.1:n.*200G>C
ENST00000705175.1:c.1017G>C	ENSP00000516077.1:p.Ala339=
ENST00000705176.1:c.1077G>C	ENSP00000516078.1:p.Ala359=
ENST00000705177.1:c.*475G>C	ENSP00000516079.1:n.*475G>C
ENST00000705178.1:c.414G>C	ENSP00000516080.1:p.Ala138=
ENST00000705179.1:c.609G>C	ENSP00000516081.1:p.Ala203=
ENST00000705180.1:c.549G>C	ENSP00000516082.1:p.Ala183=
ENST00000705235.1:c.891G>C	ENSP00000516093.1:p.Ala297=
ENST00000705236.1:c.831G>C	ENSP00000516094.1:p.Ala277=
ENST00000705237.1:c.549G>C	ENSP00000516095.1:p.Ala183=
ENST00000705238.1:c.750G>C	ENSP00000516096.1:p.Ala250=
ENST00000705239.1:c.828G>C	ENSP00000516097.1:p.Ala276=
ENST00000705240.1:c.*500G>C	ENSP00000516098.1:n.*500G>C
ENST00000705241.1:c.*23G>C	ENSP00000516099.1:n.*23G>C
ENST00000705242.1:c.828G>C	ENSP00000516100.1:p.Ala276=
ENST00000705249.1:c.831G>C	ENSP00000516101.1:p.Ala277=
ENST00000705250.1:c.609G>C	ENSP00000516102.1:p.Ala203=
ENST00000705251.1:c.*478G>C	ENSP00000516103.1:n.*478G>C
ENST00000705252.1:c.*301G>C	ENSP00000516104.1:n.*301G>C
ENST00000705253.1:c.*301G>C	ENSP00000516105.1:n.*301G>C
ENST00000705254.1:c.438G>C	ENSP00000516106.1:p.Ala146=
ENST00000705255.1:n.1457G>C
ENST00000705256.1:c.888G>C	ENSP00000516107.1:p.Ala296=
ENST00000366847.9:c.891G>C MANE Select	ENSP00000355812.3:p.Ala297=
ENST00000349556.4:c.831G>C	ENSP00000230248.6:p.Ala277=
ENST00000366847.8:c.891G>C	ENSP00000355812.3:p.Ala297=
ENST00000488525.1:n.77G>C
ENST00000496181.1:n.295G>C
ENST00000622353.4:c.750G>C	ENSP00000479115.1:p.Ala250=
NM_001278690.1:c.750G>C	NP_001265619.1:p.Ala250=
NM_007045.3:c.891G>C	NP_008976.1:p.Ala297=
NM_194429.2:c.831G>C	NP_919410.1:p.Ala277=
NM_007045.4:c.891G>C MANE Select	NP_008976.1:p.Ala297=
NM_194429.3:c.831G>C	NP_919410.1:p.Ala277=
NM_001278690.2:c.750G>C	NP_001265619.1:p.Ala250=