Canonical Allele Identifier: CA6230452

Gene: CEP295

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93687848C>T , CM000673.2:g.93687848C>T	GRCh38
NC_000011.9:g.93421014C>T , CM000673.1:g.93421014C>T	GRCh37
NC_000011.8:g.93060662C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325212.11:c.1319C>T MANE Select	ENSP00000316681.6:p.Ser440Phe
ENST00000325212.10:c.1319C>T	ENSP00000316681.6:p.Ser440Phe
NM_033395.1:c.1319C>T	NP_203753.1:p.Ser440Phe
XM_005274366.1:c.1319C>T	XP_005274423.1:p.Ser440Phe
XM_005274367.1:c.1319C>T	XP_005274424.1:p.Ser440Phe
XM_005274368.1:c.1319C>T	XP_005274425.1:p.Ser440Phe
XM_011543047.1:c.1319C>T	XP_011541349.1:p.Ser440Phe
XM_011543048.1:c.1319C>T	XP_011541350.1:p.Ser440Phe
XM_011543049.1:c.1319C>T	XP_011541351.1:p.Ser440Phe
XM_011543050.1:c.620C>T	XP_011541352.1:p.Ser207Phe
XM_011543051.1:c.620C>T	XP_011541353.1:p.Ser207Phe
XM_011543052.1:c.1319C>T	XP_011541354.1:p.Ser440Phe
XM_011543053.1:c.-233C>T	XP_011541355.1:n.-233C>T
XR_947866.1:n.1434C>T
XR_947867.1:n.1434C>T
XM_005274367.2:c.1319C>T	XP_005274424.1:p.Ser440Phe
XM_005274368.2:c.1319C>T	XP_005274425.1:p.Ser440Phe
XM_011543050.2:c.620C>T	XP_011541352.1:p.Ser207Phe
XM_011543053.2:c.-233C>T	XP_011541355.1:n.-233C>T
XM_017018470.1:c.1319C>T	XP_016873959.1:p.Ser440Phe
XM_017018471.1:c.1319C>T	XP_016873960.1:p.Ser440Phe
XM_017018472.1:c.1319C>T	XP_016873961.1:p.Ser440Phe
XM_017018473.1:c.620C>T	XP_016873962.1:p.Ser207Phe
XM_017018474.2:c.620C>T	XP_016873963.1:p.Ser207Phe
XM_017018475.1:c.620C>T	XP_016873964.1:p.Ser207Phe
XM_017018476.1:c.-233C>T	XP_016873965.1:n.-233C>T
XM_024448744.1:c.-114C>T	XP_024304512.1:n.-114C>T
XR_001748019.1:n.1434C>T
XR_001748020.1:n.1434C>T
XR_001748021.1:n.1434C>T
NM_033395.2:c.1319C>T MANE Select	NP_203753.1:p.Ser440Phe