Canonical Allele Identifier: CA366409985

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438355G>T (hg19) ; chr6:g.167024867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024867G>T , CM000668.2:g.167024867G>T	GRCh38
NC_000006.11:g.167438355G>T , CM000668.1:g.167438355G>T	GRCh37
NC_000006.10:g.167358345G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.832G>T	ENSP00000230248.6:p.Gly278Ter
ENST00000488525.2:c.*24G>T	ENSP00000516042.1:n.*24G>T
ENST00000609590.2:n.1764G>T
ENST00000704900.1:c.469G>T	ENSP00000516059.1:p.Gly157Ter
ENST00000704901.1:c.*479G>T	ENSP00000516060.1:n.*479G>T
ENST00000704959.1:n.1157G>T
ENST00000704982.1:n.1602G>T
ENST00000704985.1:n.1998G>T
ENST00000704986.1:n.1998G>T
ENST00000705029.1:n.1723G>T
ENST00000705059.1:n.1547G>T
ENST00000705168.1:c.145G>T	ENSP00000516071.1:p.Gly49Ter
ENST00000705169.1:c.145G>T	ENSP00000516072.1:p.Gly49Ter
ENST00000705170.1:c.145G>T	ENSP00000516073.1:p.Gly49Ter
ENST00000705171.1:n.937G>T
ENST00000705173.1:c.*201G>T	ENSP00000516075.1:n.*201G>T
ENST00000705175.1:c.1018G>T	ENSP00000516077.1:p.Gly340Ter
ENST00000705176.1:c.1078G>T	ENSP00000516078.1:p.Gly360Ter
ENST00000705177.1:c.*476G>T	ENSP00000516079.1:n.*476G>T
ENST00000705178.1:c.415G>T	ENSP00000516080.1:p.Gly139Ter
ENST00000705179.1:c.610G>T	ENSP00000516081.1:p.Gly204Ter
ENST00000705180.1:c.550G>T	ENSP00000516082.1:p.Gly184Ter
ENST00000705235.1:c.892G>T	ENSP00000516093.1:p.Gly298Ter
ENST00000705236.1:c.832G>T	ENSP00000516094.1:p.Gly278Ter
ENST00000705237.1:c.550G>T	ENSP00000516095.1:p.Gly184Ter
ENST00000705238.1:c.751G>T	ENSP00000516096.1:p.Gly251Ter
ENST00000705239.1:c.829G>T	ENSP00000516097.1:p.Gly277Ter
ENST00000705240.1:c.*501G>T	ENSP00000516098.1:n.*501G>T
ENST00000705241.1:c.*24G>T	ENSP00000516099.1:n.*24G>T
ENST00000705242.1:c.829G>T	ENSP00000516100.1:p.Gly277Ter
ENST00000705249.1:c.832G>T	ENSP00000516101.1:p.Gly278Ter
ENST00000705250.1:c.610G>T	ENSP00000516102.1:p.Gly204Ter
ENST00000705251.1:c.*479G>T	ENSP00000516103.1:n.*479G>T
ENST00000705252.1:c.*302G>T	ENSP00000516104.1:n.*302G>T
ENST00000705253.1:c.*302G>T	ENSP00000516105.1:n.*302G>T
ENST00000705254.1:c.439G>T	ENSP00000516106.1:p.Gly147Ter
ENST00000705255.1:n.1458G>T
ENST00000705256.1:c.889G>T	ENSP00000516107.1:p.Gly297Ter
ENST00000366847.9:c.892G>T MANE Select	ENSP00000355812.3:p.Gly298Ter
ENST00000349556.4:c.832G>T	ENSP00000230248.6:p.Gly278Ter
ENST00000366847.8:c.892G>T	ENSP00000355812.3:p.Gly298Ter
ENST00000488525.1:n.78G>T
ENST00000496181.1:n.296G>T
ENST00000622353.4:c.751G>T	ENSP00000479115.1:p.Gly251Ter
NM_001278690.1:c.751G>T	NP_001265619.1:p.Gly251Ter
NM_007045.3:c.892G>T	NP_008976.1:p.Gly298Ter
NM_194429.2:c.832G>T	NP_919410.1:p.Gly278Ter
NM_007045.4:c.892G>T MANE Select	NP_008976.1:p.Gly298Ter
NM_194429.3:c.832G>T	NP_919410.1:p.Gly278Ter
NM_001278690.2:c.751G>T	NP_001265619.1:p.Gly251Ter