Canonical Allele Identifier: CA6230668

Gene: CEP295

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93699288T>G , CM000673.2:g.93699288T>G	GRCh38
NC_000011.9:g.93432454T>G , CM000673.1:g.93432454T>G	GRCh37
NC_000011.8:g.93072102T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325212.11:c.4376T>G MANE Select	ENSP00000316681.6:p.Leu1459Arg
ENST00000325212.10:c.4376T>G	ENSP00000316681.6:p.Leu1459Arg
ENST00000530425.1:c.-941T>G	ENSP00000431853.1:n.-941T>G
ENST00000531700.5:c.-43+2434T>G	ENSP00000437323.1:n.-43+2434T>G
NM_033395.1:c.4376T>G	NP_203753.1:p.Leu1459Arg
XM_005274366.1:c.4415T>G	XP_005274423.1:p.Leu1472Arg
XM_005274367.1:c.4415T>G	XP_005274424.1:p.Leu1472Arg
XM_005274368.1:c.4415T>G	XP_005274425.1:p.Leu1472Arg
XM_011543047.1:c.4415T>G	XP_011541349.1:p.Leu1472Arg
XM_011543048.1:c.4376T>G	XP_011541350.1:p.Leu1459Arg
XM_011543049.1:c.4415T>G	XP_011541351.1:p.Leu1472Arg
XM_011543050.1:c.3716T>G	XP_011541352.1:p.Leu1239Arg
XM_011543051.1:c.3716T>G	XP_011541353.1:p.Leu1239Arg
XM_011543052.1:c.4415T>G	XP_011541354.1:p.Leu1472Arg
XM_011543053.1:c.2879T>G	XP_011541355.1:p.Leu960Arg
XM_011543054.1:c.2879T>G	XP_011541356.1:p.Leu960Arg
XR_947866.1:n.4530T>G
XR_947867.1:n.4530T>G
XM_005274367.2:c.4415T>G	XP_005274424.1:p.Leu1472Arg
XM_005274368.2:c.4415T>G	XP_005274425.1:p.Leu1472Arg
XM_011543050.2:c.3716T>G	XP_011541352.1:p.Leu1239Arg
XM_011543053.2:c.2879T>G	XP_011541355.1:p.Leu960Arg
XM_017018470.1:c.4415T>G	XP_016873959.1:p.Leu1472Arg
XM_017018471.1:c.4415T>G	XP_016873960.1:p.Leu1472Arg
XM_017018472.1:c.4415T>G	XP_016873961.1:p.Leu1472Arg
XM_017018473.1:c.3716T>G	XP_016873962.1:p.Leu1239Arg
XM_017018474.2:c.3716T>G	XP_016873963.1:p.Leu1239Arg
XM_017018475.1:c.3677T>G	XP_016873964.1:p.Leu1226Arg
XM_017018476.1:c.2879T>G	XP_016873965.1:p.Leu960Arg
XM_024448744.1:c.2879T>G	XP_024304512.1:p.Leu960Arg
XR_001748019.1:n.4530T>G
XR_001748020.1:n.4530T>G
XR_001748021.1:n.4530T>G
NM_033395.2:c.4376T>G MANE Select	NP_203753.1:p.Leu1459Arg