Canonical Allele Identifier: CA1270419

Gene: CEP350

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180075169A>G , CM000663.2:g.180075169A>G	GRCh38
NC_000001.10:g.180044304A>G , CM000663.1:g.180044304A>G	GRCh37
NC_000001.9:g.178310927A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417046.2:c.5712A>G	ENSP00000401608.2:p.Ile1904Met
ENST00000418229.6:c.*5582A>G	ENSP00000407044.2:n.*5582A>G
ENST00000429851.6:c.*5613A>G	ENSP00000412460.2:n.*5613A>G
ENST00000437245.2:c.1674A>G	ENSP00000409395.2:p.Ile558Met
ENST00000490047.2:c.*1183A>G	ENSP00000432910.2:n.*1183A>G
ENST00000706234.1:c.5712A>G	ENSP00000516289.1:p.Ile1904Met
ENST00000706235.1:n.6340A>G
ENST00000706241.1:c.*5712A>G	ENSP00000516290.1:n.*5712A>G
ENST00000706262.1:c.*5461A>G	ENSP00000516309.1:n.*5461A>G
ENST00000367607.8:c.5715A>G MANE Select	ENSP00000356579.3:p.Ile1905Met
ENST00000367607.7:c.5715A>G	ENSP00000356579.3:p.Ile1905Met
ENST00000429851.5:c.238A>G
NM_014810.4:c.5715A>G	NP_055625.4:p.Ile1905Met
XM_005245638.3:c.5838A>G	XP_005245695.1:p.Ile1946Met
XM_011510191.1:c.5931A>G	XP_011508493.1:p.Ile1977Met
XM_011510192.1:c.5931A>G	XP_011508494.1:p.Ile1977Met
XM_011510193.1:c.5928A>G	XP_011508495.1:p.Ile1976Met
XM_011510194.1:c.5928A>G	XP_011508496.1:p.Ile1976Met
XM_011510195.1:c.5919A>G	XP_011508497.1:p.Ile1973Met
XM_011510196.1:c.5868A>G	XP_011508498.1:p.Ile1956Met
XM_011510197.1:c.5865A>G	XP_011508499.1:p.Ile1955Met
XM_011510198.1:c.5808A>G	XP_011508500.1:p.Ile1936Met
XM_011510191.2:c.5931A>G	XP_011508493.1:p.Ile1977Met
XM_011510198.2:c.5808A>G	XP_011508500.1:p.Ile1936Met
XM_017002929.1:c.5838A>G	XP_016858418.1:p.Ile1946Met
XM_017002930.1:c.5835A>G	XP_016858419.1:p.Ile1945Met
XM_017002931.1:c.5808A>G	XP_016858420.1:p.Ile1936Met
NM_014810.5:c.5715A>G MANE Select	NP_055625.4:p.Ile1905Met