Canonical Allele Identifier: CA366410019

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024885-G-T
• MyVariant Identifiers: chr6:g.167438373G>T (hg19) ; chr6:g.167024885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024885G>T , CM000668.2:g.167024885G>T	GRCh38
NC_000006.11:g.167438373G>T , CM000668.1:g.167438373G>T	GRCh37
NC_000006.10:g.167358363G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.850G>T	ENSP00000230248.6:p.Asp284Tyr
ENST00000488525.2:c.*42G>T	ENSP00000516042.1:n.*42G>T
ENST00000609590.2:n.1782G>T
ENST00000704900.1:c.487G>T	ENSP00000516059.1:p.Asp163Tyr
ENST00000704901.1:c.*497G>T	ENSP00000516060.1:n.*497G>T
ENST00000704959.1:n.1175G>T
ENST00000704982.1:n.1620G>T
ENST00000704985.1:n.2016G>T
ENST00000704986.1:n.2016G>T
ENST00000705029.1:n.1741G>T
ENST00000705059.1:n.1565G>T
ENST00000705168.1:c.163G>T	ENSP00000516071.1:p.Asp55Tyr
ENST00000705169.1:c.163G>T	ENSP00000516072.1:p.Asp55Tyr
ENST00000705170.1:c.163G>T	ENSP00000516073.1:p.Asp55Tyr
ENST00000705171.1:n.955G>T
ENST00000705173.1:c.*219G>T	ENSP00000516075.1:n.*219G>T
ENST00000705175.1:c.1036G>T	ENSP00000516077.1:p.Asp346Tyr
ENST00000705176.1:c.1096G>T	ENSP00000516078.1:p.Asp366Tyr
ENST00000705177.1:c.*494G>T	ENSP00000516079.1:n.*494G>T
ENST00000705178.1:c.433G>T	ENSP00000516080.1:p.Asp145Tyr
ENST00000705179.1:c.628G>T	ENSP00000516081.1:p.Asp210Tyr
ENST00000705180.1:c.568G>T	ENSP00000516082.1:p.Asp190Tyr
ENST00000705235.1:c.910G>T	ENSP00000516093.1:p.Asp304Tyr
ENST00000705236.1:c.850G>T	ENSP00000516094.1:p.Asp284Tyr
ENST00000705237.1:c.568G>T	ENSP00000516095.1:p.Asp190Tyr
ENST00000705238.1:c.769G>T	ENSP00000516096.1:p.Asp257Tyr
ENST00000705239.1:c.847G>T	ENSP00000516097.1:p.Asp283Tyr
ENST00000705240.1:c.*519G>T	ENSP00000516098.1:n.*519G>T
ENST00000705241.1:c.*42G>T	ENSP00000516099.1:n.*42G>T
ENST00000705242.1:c.847G>T	ENSP00000516100.1:p.Asp283Tyr
ENST00000705249.1:c.850G>T	ENSP00000516101.1:p.Asp284Tyr
ENST00000705250.1:c.628G>T	ENSP00000516102.1:p.Asp210Tyr
ENST00000705251.1:c.*497G>T	ENSP00000516103.1:n.*497G>T
ENST00000705252.1:c.*320G>T	ENSP00000516104.1:n.*320G>T
ENST00000705253.1:c.*320G>T	ENSP00000516105.1:n.*320G>T
ENST00000705254.1:c.457G>T	ENSP00000516106.1:p.Asp153Tyr
ENST00000705255.1:n.1476G>T
ENST00000705256.1:c.907G>T	ENSP00000516107.1:p.Asp303Tyr
ENST00000366847.9:c.910G>T MANE Select	ENSP00000355812.3:p.Asp304Tyr
ENST00000349556.4:c.850G>T	ENSP00000230248.6:p.Asp284Tyr
ENST00000366847.8:c.910G>T	ENSP00000355812.3:p.Asp304Tyr
ENST00000488525.1:n.96G>T
ENST00000496181.1:n.314G>T
ENST00000622353.4:c.769G>T	ENSP00000479115.1:p.Asp257Tyr
NM_001278690.1:c.769G>T	NP_001265619.1:p.Asp257Tyr
NM_007045.3:c.910G>T	NP_008976.1:p.Asp304Tyr
NM_194429.2:c.850G>T	NP_919410.1:p.Asp284Tyr
NM_007045.4:c.910G>T MANE Select	NP_008976.1:p.Asp304Tyr
NM_194429.3:c.850G>T	NP_919410.1:p.Asp284Tyr
NM_001278690.2:c.769G>T	NP_001265619.1:p.Asp257Tyr