Canonical Allele Identifier: CA366409852

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438290A>T (hg19) ; chr6:g.167024802A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024802A>T , CM000668.2:g.167024802A>T	GRCh38
NC_000006.11:g.167438290A>T , CM000668.1:g.167438290A>T	GRCh37
NC_000006.10:g.167358280A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.767A>T	ENSP00000230248.6:p.Gln256Leu
ENST00000488525.2:c.823A>T	ENSP00000516042.1:p.Lys275Ter
ENST00000609590.2:n.1699A>T
ENST00000704900.1:c.404A>T	ENSP00000516059.1:p.Gln135Leu
ENST00000704901.1:c.*414A>T	ENSP00000516060.1:n.*414A>T
ENST00000704959.1:n.1092A>T
ENST00000704982.1:n.1537A>T
ENST00000704985.1:n.1933A>T
ENST00000704986.1:n.1933A>T
ENST00000705029.1:n.1658A>T
ENST00000705059.1:n.1482A>T
ENST00000705168.1:c.80A>T	ENSP00000516071.1:p.Gln27Leu
ENST00000705169.1:c.80A>T	ENSP00000516072.1:p.Gln27Leu
ENST00000705170.1:c.80A>T	ENSP00000516073.1:p.Gln27Leu
ENST00000705171.1:n.872A>T
ENST00000705173.1:c.*136A>T	ENSP00000516075.1:n.*136A>T
ENST00000705175.1:c.953A>T	ENSP00000516077.1:p.Gln318Leu
ENST00000705176.1:c.1013A>T	ENSP00000516078.1:p.Gln338Leu
ENST00000705177.1:c.*411A>T	ENSP00000516079.1:n.*411A>T
ENST00000705178.1:c.350A>T	ENSP00000516080.1:p.Gln117Leu
ENST00000705179.1:c.545A>T	ENSP00000516081.1:p.Gln182Leu
ENST00000705180.1:c.485A>T	ENSP00000516082.1:p.Gln162Leu
ENST00000705235.1:c.827A>T	ENSP00000516093.1:p.Gln276Leu
ENST00000705236.1:c.767A>T	ENSP00000516094.1:p.Gln256Leu
ENST00000705237.1:c.485A>T	ENSP00000516095.1:p.Gln162Leu
ENST00000705238.1:c.686A>T	ENSP00000516096.1:p.Gln229Leu
ENST00000705239.1:c.764A>T	ENSP00000516097.1:p.Gln255Leu
ENST00000705240.1:c.*436A>T	ENSP00000516098.1:n.*436A>T
ENST00000705241.1:c.763A>T	ENSP00000516099.1:p.Lys255Ter
ENST00000705242.1:c.764A>T	ENSP00000516100.1:p.Gln255Leu
ENST00000705249.1:c.767A>T	ENSP00000516101.1:p.Gln256Leu
ENST00000705250.1:c.545A>T	ENSP00000516102.1:p.Gln182Leu
ENST00000705251.1:c.*414A>T	ENSP00000516103.1:n.*414A>T
ENST00000705252.1:c.*237A>T	ENSP00000516104.1:n.*237A>T
ENST00000705253.1:c.*237A>T	ENSP00000516105.1:n.*237A>T
ENST00000705254.1:c.374A>T	ENSP00000516106.1:p.Gln125Leu
ENST00000705255.1:n.1393A>T
ENST00000705256.1:c.824A>T	ENSP00000516107.1:p.Gln275Leu
ENST00000366847.9:c.827A>T MANE Select	ENSP00000355812.3:p.Gln276Leu
ENST00000349556.4:c.767A>T	ENSP00000230248.6:p.Gln256Leu
ENST00000366847.8:c.827A>T	ENSP00000355812.3:p.Gln276Leu
ENST00000488525.1:n.13A>T
ENST00000496181.1:n.231A>T
ENST00000622353.4:c.686A>T	ENSP00000479115.1:p.Gln229Leu
NM_001278690.1:c.686A>T	NP_001265619.1:p.Gln229Leu
NM_007045.3:c.827A>T	NP_008976.1:p.Gln276Leu
NM_194429.2:c.767A>T	NP_919410.1:p.Gln256Leu
NM_007045.4:c.827A>T MANE Select	NP_008976.1:p.Gln276Leu
NM_194429.3:c.767A>T	NP_919410.1:p.Gln256Leu
NM_001278690.2:c.686A>T	NP_001265619.1:p.Gln229Leu