Canonical Allele Identifier: CA151913212

Gene: CEP43

Linked Data

• dbSNP Id: rs753708860
• gnomAD v2: 6-167438282-T-G
• gnomAD v4: 6-167024794-T-G
• MyVariant Identifiers: chr6:g.167438282T>G (hg19) ; chr6:g.167024794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024794T>G , CM000668.2:g.167024794T>G	GRCh38
NC_000006.11:g.167438282T>G , CM000668.1:g.167438282T>G	GRCh37
NC_000006.10:g.167358272T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.759T>G	ENSP00000230248.6:p.Pro253=
ENST00000488525.2:c.815T>G	ENSP00000516042.1:p.Leu272Arg
ENST00000609590.2:n.1691T>G
ENST00000704900.1:c.396T>G	ENSP00000516059.1:p.Pro132=
ENST00000704901.1:c.*406T>G	ENSP00000516060.1:n.*406T>G
ENST00000704959.1:n.1084T>G
ENST00000704982.1:n.1529T>G
ENST00000704985.1:n.1925T>G
ENST00000704986.1:n.1925T>G
ENST00000705029.1:n.1650T>G
ENST00000705059.1:n.1474T>G
ENST00000705168.1:c.72T>G	ENSP00000516071.1:p.Pro24=
ENST00000705169.1:c.72T>G	ENSP00000516072.1:p.Pro24=
ENST00000705170.1:c.72T>G	ENSP00000516073.1:p.Pro24=
ENST00000705171.1:n.864T>G
ENST00000705173.1:c.*128T>G	ENSP00000516075.1:n.*128T>G
ENST00000705175.1:c.945T>G	ENSP00000516077.1:p.Pro315=
ENST00000705176.1:c.1005T>G	ENSP00000516078.1:p.Pro335=
ENST00000705177.1:c.*403T>G	ENSP00000516079.1:n.*403T>G
ENST00000705178.1:c.342T>G	ENSP00000516080.1:p.Pro114=
ENST00000705179.1:c.537T>G	ENSP00000516081.1:p.Pro179=
ENST00000705180.1:c.477T>G	ENSP00000516082.1:p.Pro159=
ENST00000705235.1:c.819T>G	ENSP00000516093.1:p.Pro273=
ENST00000705236.1:c.759T>G	ENSP00000516094.1:p.Pro253=
ENST00000705237.1:c.477T>G	ENSP00000516095.1:p.Pro159=
ENST00000705238.1:c.678T>G	ENSP00000516096.1:p.Pro226=
ENST00000705239.1:c.756T>G	ENSP00000516097.1:p.Pro252=
ENST00000705240.1:c.*428T>G	ENSP00000516098.1:n.*428T>G
ENST00000705241.1:c.755T>G	ENSP00000516099.1:p.Leu252Arg
ENST00000705242.1:c.756T>G	ENSP00000516100.1:p.Pro252=
ENST00000705249.1:c.759T>G	ENSP00000516101.1:p.Pro253=
ENST00000705250.1:c.537T>G	ENSP00000516102.1:p.Pro179=
ENST00000705251.1:c.*406T>G	ENSP00000516103.1:n.*406T>G
ENST00000705252.1:c.*229T>G	ENSP00000516104.1:n.*229T>G
ENST00000705253.1:c.*229T>G	ENSP00000516105.1:n.*229T>G
ENST00000705254.1:c.366T>G	ENSP00000516106.1:p.Pro122=
ENST00000705255.1:n.1385T>G
ENST00000705256.1:c.816T>G	ENSP00000516107.1:p.Pro272=
ENST00000366847.9:c.819T>G MANE Select	ENSP00000355812.3:p.Pro273=
ENST00000349556.4:c.759T>G	ENSP00000230248.6:p.Pro253=
ENST00000366847.8:c.819T>G	ENSP00000355812.3:p.Pro273=
ENST00000488525.1:n.5T>G
ENST00000496181.1:n.223T>G
ENST00000622353.4:c.678T>G	ENSP00000479115.1:p.Pro226=
NM_001278690.1:c.678T>G	NP_001265619.1:p.Pro226=
NM_007045.3:c.819T>G	NP_008976.1:p.Pro273=
NM_194429.2:c.759T>G	NP_919410.1:p.Pro253=
NM_007045.4:c.819T>G MANE Select	NP_008976.1:p.Pro273=
NM_194429.3:c.759T>G	NP_919410.1:p.Pro253=
NM_001278690.2:c.678T>G	NP_001265619.1:p.Pro226=