Canonical Allele Identifier: CA774217926

Gene: CEP112

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.66102427T>A , CM000679.2:g.66102427T>A	GRCh38
NC_000017.10:g.64098545T>A , CM000679.1:g.64098545T>A	GRCh37
NC_000017.9:g.61529007T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706790.1:c.643-5795A>T	ENSP00000516553.1:n.643-5795A>T
ENST00000706791.1:c.*141-5795A>T	ENSP00000516554.1:n.*141-5795A>T
ENST00000706792.1:c.574-5795A>T	ENSP00000516555.1:n.574-5795A>T
ENST00000706793.1:c.564+30243A>T	ENSP00000516556.1:n.564+30243A>T
ENST00000706794.1:c.471-32426A>T	ENSP00000516557.1:n.471-32426A>T
ENST00000706795.1:c.643-5795A>T	ENSP00000516558.1:n.643-5795A>T
ENST00000706796.1:n.772-5795A>T
ENST00000706799.1:n.898-5795A>T
ENST00000535342.7:c.643-5795A>T MANE Select	ENSP00000442784.2:n.643-5795A>T
ENST00000392769.6:c.643-5795A>T	ENSP00000376522.2:n.643-5795A>T
ENST00000535342.6:c.643-5795A>T	ENSP00000442784.2:n.643-5795A>T
ENST00000537949.5:c.642+27319A>T	ENSP00000440775.1:n.642+27319A>T
ENST00000583358.1:c.643-5795A>T	ENSP00000463914.1:n.643-5795A>T
NM_001199165.2:c.643-5795A>T	NP_001186094.1:n.643-5795A>T
NM_001302891.1:c.642+27319A>T	NP_001289820.1:n.642+27319A>T
XM_005257119.3:c.643-5795A>T	XP_005257176.1:n.643-5795A>T
XM_006721740.2:c.643-5795A>T	XP_006721803.1:n.643-5795A>T
XM_006721741.2:c.643-5795A>T	XP_006721804.1:n.643-5795A>T
XM_006721742.2:c.643-5795A>T	XP_006721805.1:n.643-5795A>T
XM_006721744.2:c.643-5795A>T	XP_006721807.1:n.643-5795A>T
XM_011524461.1:c.643-5795A>T	XP_011522763.1:n.643-5795A>T
XM_011524462.1:c.643-5795A>T	XP_011522764.1:n.643-5795A>T
XM_011524463.1:c.643-5795A>T	XP_011522765.1:n.643-5795A>T
XM_011524464.1:c.643-5795A>T	XP_011522766.1:n.643-5795A>T
XM_011524465.1:c.-51-5795A>T	XP_011522767.1:n.-51-5795A>T
XR_934412.1:n.876-5795A>T
XR_934413.1:n.881-5795A>T
XR_934414.1:n.880-5795A>T
NM_001199165.3:c.643-5795A>T	NP_001186094.1:n.643-5795A>T
NM_001302891.2:c.642+27319A>T	NP_001289820.1:n.642+27319A>T
NM_001353127.1:c.643-5795A>T	NP_001340056.1:n.643-5795A>T
NM_001353128.1:c.642+27319A>T	NP_001340057.1:n.642+27319A>T
NM_001353129.1:c.643-5795A>T	NP_001340058.1:n.643-5795A>T
XM_005257119.5:c.643-5795A>T	XP_005257176.1:n.643-5795A>T
XM_006721744.3:c.643-5795A>T	XP_006721807.1:n.643-5795A>T
XM_011524462.3:c.643-5795A>T	XP_011522764.1:n.643-5795A>T
XM_011524463.2:c.643-5795A>T	XP_011522765.1:n.643-5795A>T
XM_011524464.3:c.643-5795A>T	XP_011522766.1:n.643-5795A>T
XM_011524465.2:c.-51-5795A>T	XP_011522767.1:n.-51-5795A>T
XM_024450634.1:c.-48-5795A>T	XP_024306402.1:n.-48-5795A>T
XR_001752444.1:n.881-5795A>T
XR_934412.2:n.879-5795A>T
XR_934414.2:n.881-5795A>T
NM_001199165.4:c.643-5795A>T MANE Select	NP_001186094.1:n.643-5795A>T
NM_001302891.3:c.642+27319A>T	NP_001289820.1:n.642+27319A>T
NM_001353128.2:c.642+27319A>T	NP_001340057.1:n.642+27319A>T
NM_001353129.2:c.643-5795A>T	NP_001340058.1:n.643-5795A>T
NM_001353127.2:c.643-5795A>T	NP_001340056.1:n.643-5795A>T