Canonical Allele Identifier: CA6230992
Community Standard Title: NM_033395.2(CEP295):c.6622C>G (p.Gln2208Glu)
Gene: CEP295 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.93727098C>G , CM000673.2:g.93727098C>G GRCh38
NC_000011.9:g.93460264C>G , CM000673.1:g.93460264C>G GRCh37
NC_000011.8:g.93099912C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_033395.2:c.6622C>G MANE Select NP_203753.1:p.Gln2208Glu
ENST00000325212.11:c.6622C>G MANE Select ENSP00000316681.6:p.Gln2208Glu
NM_033395.1:c.6622C>G NP_203753.1:p.Gln2208Glu
ENST00000325212.10:c.6622C>G ENSP00000316681.6:p.Gln2208Glu
ENST00000529185.1:c.220C>G ENSP00000433198.1:p.Gln74Glu
ENST00000531404.1:c.658C>G ENSP00000433650.1:p.Gln220Glu
ENST00000531700.5:c.1162C>G ENSP00000437323.1:p.Gln388Glu
XM_005274366.1:c.6661C>G XP_005274423.1:p.Gln2221Glu
XM_005274367.1:c.6661C>G XP_005274424.1:p.Gln2221Glu
XM_005274367.2:c.6661C>G XP_005274424.1:p.Gln2221Glu
XM_005274368.1:c.6517C>G XP_005274425.1:p.Gln2173Glu
XM_005274368.2:c.6517C>G XP_005274425.1:p.Gln2173Glu
XM_011543047.1:c.6661C>G XP_011541349.1:p.Gln2221Glu
XM_011543048.1:c.6622C>G XP_011541350.1:p.Gln2208Glu
XM_011543049.1:c.6517C>G XP_011541351.1:p.Gln2173Glu
XM_011543050.1:c.5962C>G XP_011541352.1:p.Gln1988Glu
XM_011543050.2:c.5962C>G XP_011541352.1:p.Gln1988Glu
XM_011543051.1:c.5962C>G XP_011541353.1:p.Gln1988Glu
XM_011543053.1:c.5125C>G XP_011541355.1:p.Gln1709Glu
XM_011543053.2:c.5125C>G XP_011541355.1:p.Gln1709Glu
XM_011543054.1:c.5125C>G XP_011541356.1:p.Gln1709Glu
XM_017018470.1:c.6661C>G XP_016873959.1:p.Gln2221Glu
XM_017018471.1:c.6517C>G XP_016873960.1:p.Gln2173Glu
XM_017018472.1:c.6517C>G XP_016873961.1:p.Gln2173Glu
XM_017018473.1:c.5962C>G XP_016873962.1:p.Gln1988Glu
XM_017018474.2:c.5962C>G XP_016873963.1:p.Gln1988Glu
XM_017018475.1:c.5923C>G XP_016873964.1:p.Gln1975Glu
XM_017018476.1:c.5125C>G XP_016873965.1:p.Gln1709Glu
XM_024448744.1:c.5125C>G XP_024304512.1:p.Gln1709Glu
XR_001748019.1:n.6679C>G
XR_001748020.1:n.6679C>G
XR_001748021.1:n.6535C>G
XR_947866.1:n.6679C>G
XR_947867.1:n.6535C>G