Canonical Allele Identifier: CA453081414

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438301C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024813C>T , CM000668.2:g.167024813C>T	GRCh38
NC_000006.11:g.167438301C>T , CM000668.1:g.167438301C>T	GRCh37
NC_000006.10:g.167358291C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.778C>T	ENSP00000230248.6:p.Leu260=
ENST00000488525.2:c.834C>T	ENSP00000516042.1:p.Val278=
ENST00000609590.2:n.1710C>T
ENST00000704900.1:c.415C>T	ENSP00000516059.1:p.Leu139=
ENST00000704901.1:c.*425C>T	ENSP00000516060.1:n.*425C>T
ENST00000704959.1:n.1103C>T
ENST00000704982.1:n.1548C>T
ENST00000704985.1:n.1944C>T
ENST00000704986.1:n.1944C>T
ENST00000705029.1:n.1669C>T
ENST00000705059.1:n.1493C>T
ENST00000705168.1:c.91C>T	ENSP00000516071.1:p.Leu31=
ENST00000705169.1:c.91C>T	ENSP00000516072.1:p.Leu31=
ENST00000705170.1:c.91C>T	ENSP00000516073.1:p.Leu31=
ENST00000705171.1:n.883C>T
ENST00000705173.1:c.*147C>T	ENSP00000516075.1:n.*147C>T
ENST00000705175.1:c.964C>T	ENSP00000516077.1:p.Leu322=
ENST00000705176.1:c.1024C>T	ENSP00000516078.1:p.Leu342=
ENST00000705177.1:c.*422C>T	ENSP00000516079.1:n.*422C>T
ENST00000705178.1:c.361C>T	ENSP00000516080.1:p.Leu121=
ENST00000705179.1:c.556C>T	ENSP00000516081.1:p.Leu186=
ENST00000705180.1:c.496C>T	ENSP00000516082.1:p.Leu166=
ENST00000705235.1:c.838C>T	ENSP00000516093.1:p.Leu280=
ENST00000705236.1:c.778C>T	ENSP00000516094.1:p.Leu260=
ENST00000705237.1:c.496C>T	ENSP00000516095.1:p.Leu166=
ENST00000705238.1:c.697C>T	ENSP00000516096.1:p.Leu233=
ENST00000705239.1:c.775C>T	ENSP00000516097.1:p.Leu259=
ENST00000705240.1:c.*447C>T	ENSP00000516098.1:n.*447C>T
ENST00000705241.1:c.774C>T	ENSP00000516099.1:p.Val258=
ENST00000705242.1:c.775C>T	ENSP00000516100.1:p.Leu259=
ENST00000705249.1:c.778C>T	ENSP00000516101.1:p.Leu260=
ENST00000705250.1:c.556C>T	ENSP00000516102.1:p.Leu186=
ENST00000705251.1:c.*425C>T	ENSP00000516103.1:n.*425C>T
ENST00000705252.1:c.*248C>T	ENSP00000516104.1:n.*248C>T
ENST00000705253.1:c.*248C>T	ENSP00000516105.1:n.*248C>T
ENST00000705254.1:c.385C>T	ENSP00000516106.1:p.Leu129=
ENST00000705255.1:n.1404C>T
ENST00000705256.1:c.835C>T	ENSP00000516107.1:p.Leu279=
ENST00000366847.9:c.838C>T MANE Select	ENSP00000355812.3:p.Leu280=
ENST00000349556.4:c.778C>T	ENSP00000230248.6:p.Leu260=
ENST00000366847.8:c.838C>T	ENSP00000355812.3:p.Leu280=
ENST00000488525.1:n.24C>T
ENST00000496181.1:n.242C>T
ENST00000622353.4:c.697C>T	ENSP00000479115.1:p.Leu233=
NM_001278690.1:c.697C>T	NP_001265619.1:p.Leu233=
NM_007045.3:c.838C>T	NP_008976.1:p.Leu280=
NM_194429.2:c.778C>T	NP_919410.1:p.Leu260=
NM_007045.4:c.838C>T MANE Select	NP_008976.1:p.Leu280=
NM_194429.3:c.778C>T	NP_919410.1:p.Leu260=
NM_001278690.2:c.697C>T	NP_001265619.1:p.Leu233=