Canonical Allele Identifier: CA366409873

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438300T>A (hg19) ; chr6:g.167024812T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024812T>A , CM000668.2:g.167024812T>A	GRCh38
NC_000006.11:g.167438300T>A , CM000668.1:g.167438300T>A	GRCh37
NC_000006.10:g.167358290T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.777T>A	ENSP00000230248.6:p.Ser259Arg
ENST00000488525.2:c.833T>A	ENSP00000516042.1:p.Val278Asp
ENST00000609590.2:n.1709T>A
ENST00000704900.1:c.414T>A	ENSP00000516059.1:p.Ser138Arg
ENST00000704901.1:c.*424T>A	ENSP00000516060.1:n.*424T>A
ENST00000704959.1:n.1102T>A
ENST00000704982.1:n.1547T>A
ENST00000704985.1:n.1943T>A
ENST00000704986.1:n.1943T>A
ENST00000705029.1:n.1668T>A
ENST00000705059.1:n.1492T>A
ENST00000705168.1:c.90T>A	ENSP00000516071.1:p.Ser30Arg
ENST00000705169.1:c.90T>A	ENSP00000516072.1:p.Ser30Arg
ENST00000705170.1:c.90T>A	ENSP00000516073.1:p.Ser30Arg
ENST00000705171.1:n.882T>A
ENST00000705173.1:c.*146T>A	ENSP00000516075.1:n.*146T>A
ENST00000705175.1:c.963T>A	ENSP00000516077.1:p.Ser321Arg
ENST00000705176.1:c.1023T>A	ENSP00000516078.1:p.Ser341Arg
ENST00000705177.1:c.*421T>A	ENSP00000516079.1:n.*421T>A
ENST00000705178.1:c.360T>A	ENSP00000516080.1:p.Ser120Arg
ENST00000705179.1:c.555T>A	ENSP00000516081.1:p.Ser185Arg
ENST00000705180.1:c.495T>A	ENSP00000516082.1:p.Ser165Arg
ENST00000705235.1:c.837T>A	ENSP00000516093.1:p.Ser279Arg
ENST00000705236.1:c.777T>A	ENSP00000516094.1:p.Ser259Arg
ENST00000705237.1:c.495T>A	ENSP00000516095.1:p.Ser165Arg
ENST00000705238.1:c.696T>A	ENSP00000516096.1:p.Ser232Arg
ENST00000705239.1:c.774T>A	ENSP00000516097.1:p.Ser258Arg
ENST00000705240.1:c.*446T>A	ENSP00000516098.1:n.*446T>A
ENST00000705241.1:c.773T>A	ENSP00000516099.1:p.Val258Asp
ENST00000705242.1:c.774T>A	ENSP00000516100.1:p.Ser258Arg
ENST00000705249.1:c.777T>A	ENSP00000516101.1:p.Ser259Arg
ENST00000705250.1:c.555T>A	ENSP00000516102.1:p.Ser185Arg
ENST00000705251.1:c.*424T>A	ENSP00000516103.1:n.*424T>A
ENST00000705252.1:c.*247T>A	ENSP00000516104.1:n.*247T>A
ENST00000705253.1:c.*247T>A	ENSP00000516105.1:n.*247T>A
ENST00000705254.1:c.384T>A	ENSP00000516106.1:p.Ser128Arg
ENST00000705255.1:n.1403T>A
ENST00000705256.1:c.834T>A	ENSP00000516107.1:p.Ser278Arg
ENST00000366847.9:c.837T>A MANE Select	ENSP00000355812.3:p.Ser279Arg
ENST00000349556.4:c.777T>A	ENSP00000230248.6:p.Ser259Arg
ENST00000366847.8:c.837T>A	ENSP00000355812.3:p.Ser279Arg
ENST00000488525.1:n.23T>A
ENST00000496181.1:n.241T>A
ENST00000622353.4:c.696T>A	ENSP00000479115.1:p.Ser232Arg
NM_001278690.1:c.696T>A	NP_001265619.1:p.Ser232Arg
NM_007045.3:c.837T>A	NP_008976.1:p.Ser279Arg
NM_194429.2:c.777T>A	NP_919410.1:p.Ser259Arg
NM_007045.4:c.837T>A MANE Select	NP_008976.1:p.Ser279Arg
NM_194429.3:c.777T>A	NP_919410.1:p.Ser259Arg
NM_001278690.2:c.696T>A	NP_001265619.1:p.Ser232Arg