Canonical Allele Identifier: CA453081484

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438363T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024875T>G , CM000668.2:g.167024875T>G	GRCh38
NC_000006.11:g.167438363T>G , CM000668.1:g.167438363T>G	GRCh37
NC_000006.10:g.167358353T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.840T>G	ENSP00000230248.6:p.Pro280=
ENST00000488525.2:c.*32T>G	ENSP00000516042.1:n.*32T>G
ENST00000609590.2:n.1772T>G
ENST00000704900.1:c.477T>G	ENSP00000516059.1:p.Pro159=
ENST00000704901.1:c.*487T>G	ENSP00000516060.1:n.*487T>G
ENST00000704959.1:n.1165T>G
ENST00000704982.1:n.1610T>G
ENST00000704985.1:n.2006T>G
ENST00000704986.1:n.2006T>G
ENST00000705029.1:n.1731T>G
ENST00000705059.1:n.1555T>G
ENST00000705168.1:c.153T>G	ENSP00000516071.1:p.Pro51=
ENST00000705169.1:c.153T>G	ENSP00000516072.1:p.Pro51=
ENST00000705170.1:c.153T>G	ENSP00000516073.1:p.Pro51=
ENST00000705171.1:n.945T>G
ENST00000705173.1:c.*209T>G	ENSP00000516075.1:n.*209T>G
ENST00000705175.1:c.1026T>G	ENSP00000516077.1:p.Pro342=
ENST00000705176.1:c.1086T>G	ENSP00000516078.1:p.Pro362=
ENST00000705177.1:c.*484T>G	ENSP00000516079.1:n.*484T>G
ENST00000705178.1:c.423T>G	ENSP00000516080.1:p.Pro141=
ENST00000705179.1:c.618T>G	ENSP00000516081.1:p.Pro206=
ENST00000705180.1:c.558T>G	ENSP00000516082.1:p.Pro186=
ENST00000705235.1:c.900T>G	ENSP00000516093.1:p.Pro300=
ENST00000705236.1:c.840T>G	ENSP00000516094.1:p.Pro280=
ENST00000705237.1:c.558T>G	ENSP00000516095.1:p.Pro186=
ENST00000705238.1:c.759T>G	ENSP00000516096.1:p.Pro253=
ENST00000705239.1:c.837T>G	ENSP00000516097.1:p.Pro279=
ENST00000705240.1:c.*509T>G	ENSP00000516098.1:n.*509T>G
ENST00000705241.1:c.*32T>G	ENSP00000516099.1:n.*32T>G
ENST00000705242.1:c.837T>G	ENSP00000516100.1:p.Pro279=
ENST00000705249.1:c.840T>G	ENSP00000516101.1:p.Pro280=
ENST00000705250.1:c.618T>G	ENSP00000516102.1:p.Pro206=
ENST00000705251.1:c.*487T>G	ENSP00000516103.1:n.*487T>G
ENST00000705252.1:c.*310T>G	ENSP00000516104.1:n.*310T>G
ENST00000705253.1:c.*310T>G	ENSP00000516105.1:n.*310T>G
ENST00000705254.1:c.447T>G	ENSP00000516106.1:p.Pro149=
ENST00000705255.1:n.1466T>G
ENST00000705256.1:c.897T>G	ENSP00000516107.1:p.Pro299=
ENST00000366847.9:c.900T>G MANE Select	ENSP00000355812.3:p.Pro300=
ENST00000349556.4:c.840T>G	ENSP00000230248.6:p.Pro280=
ENST00000366847.8:c.900T>G	ENSP00000355812.3:p.Pro300=
ENST00000488525.1:n.86T>G
ENST00000496181.1:n.304T>G
ENST00000622353.4:c.759T>G	ENSP00000479115.1:p.Pro253=
NM_001278690.1:c.759T>G	NP_001265619.1:p.Pro253=
NM_007045.3:c.900T>G	NP_008976.1:p.Pro300=
NM_194429.2:c.840T>G	NP_919410.1:p.Pro280=
NM_007045.4:c.900T>G MANE Select	NP_008976.1:p.Pro300=
NM_194429.3:c.840T>G	NP_919410.1:p.Pro280=
NM_001278690.2:c.759T>G	NP_001265619.1:p.Pro253=