Canonical Allele Identifier: CA366409952

Gene: CEP43

Linked Data

• MyVariant Identifiers: chr6:g.167438338G>T (hg19) ; chr6:g.167024850G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024850G>T , CM000668.2:g.167024850G>T	GRCh38
NC_000006.11:g.167438338G>T , CM000668.1:g.167438338G>T	GRCh37
NC_000006.10:g.167358328G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.815G>T	ENSP00000230248.6:p.Gly272Val
ENST00000488525.2:c.*7G>T	ENSP00000516042.1:n.*7G>T
ENST00000609590.2:n.1747G>T
ENST00000704900.1:c.452G>T	ENSP00000516059.1:p.Gly151Val
ENST00000704901.1:c.*462G>T	ENSP00000516060.1:n.*462G>T
ENST00000704959.1:n.1140G>T
ENST00000704982.1:n.1585G>T
ENST00000704985.1:n.1981G>T
ENST00000704986.1:n.1981G>T
ENST00000705029.1:n.1706G>T
ENST00000705059.1:n.1530G>T
ENST00000705168.1:c.128G>T	ENSP00000516071.1:p.Gly43Val
ENST00000705169.1:c.128G>T	ENSP00000516072.1:p.Gly43Val
ENST00000705170.1:c.128G>T	ENSP00000516073.1:p.Gly43Val
ENST00000705171.1:n.920G>T
ENST00000705173.1:c.*184G>T	ENSP00000516075.1:n.*184G>T
ENST00000705175.1:c.1001G>T	ENSP00000516077.1:p.Gly334Val
ENST00000705176.1:c.1061G>T	ENSP00000516078.1:p.Gly354Val
ENST00000705177.1:c.*459G>T	ENSP00000516079.1:n.*459G>T
ENST00000705178.1:c.398G>T	ENSP00000516080.1:p.Gly133Val
ENST00000705179.1:c.593G>T	ENSP00000516081.1:p.Gly198Val
ENST00000705180.1:c.533G>T	ENSP00000516082.1:p.Gly178Val
ENST00000705235.1:c.875G>T	ENSP00000516093.1:p.Gly292Val
ENST00000705236.1:c.815G>T	ENSP00000516094.1:p.Gly272Val
ENST00000705237.1:c.533G>T	ENSP00000516095.1:p.Gly178Val
ENST00000705238.1:c.734G>T	ENSP00000516096.1:p.Gly245Val
ENST00000705239.1:c.812G>T	ENSP00000516097.1:p.Gly271Val
ENST00000705240.1:c.*484G>T	ENSP00000516098.1:n.*484G>T
ENST00000705241.1:c.*7G>T	ENSP00000516099.1:n.*7G>T
ENST00000705242.1:c.812G>T	ENSP00000516100.1:p.Gly271Val
ENST00000705249.1:c.815G>T	ENSP00000516101.1:p.Gly272Val
ENST00000705250.1:c.593G>T	ENSP00000516102.1:p.Gly198Val
ENST00000705251.1:c.*462G>T	ENSP00000516103.1:n.*462G>T
ENST00000705252.1:c.*285G>T	ENSP00000516104.1:n.*285G>T
ENST00000705253.1:c.*285G>T	ENSP00000516105.1:n.*285G>T
ENST00000705254.1:c.422G>T	ENSP00000516106.1:p.Gly141Val
ENST00000705255.1:n.1441G>T
ENST00000705256.1:c.872G>T	ENSP00000516107.1:p.Gly291Val
ENST00000366847.9:c.875G>T MANE Select	ENSP00000355812.3:p.Gly292Val
ENST00000349556.4:c.815G>T	ENSP00000230248.6:p.Gly272Val
ENST00000366847.8:c.875G>T	ENSP00000355812.3:p.Gly292Val
ENST00000488525.1:n.61G>T
ENST00000496181.1:n.279G>T
ENST00000622353.4:c.734G>T	ENSP00000479115.1:p.Gly245Val
NM_001278690.1:c.734G>T	NP_001265619.1:p.Gly245Val
NM_007045.3:c.875G>T	NP_008976.1:p.Gly292Val
NM_194429.2:c.815G>T	NP_919410.1:p.Gly272Val
NM_007045.4:c.875G>T MANE Select	NP_008976.1:p.Gly292Val
NM_194429.3:c.815G>T	NP_919410.1:p.Gly272Val
NM_001278690.2:c.734G>T	NP_001265619.1:p.Gly245Val