Canonical Allele Identifier: CA6294991
Gene: CEP164 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117391137C>T , CM000673.2:g.117391137C>T GRCh38
NC_000011.9:g.117261853C>T , CM000673.1:g.117261853C>T GRCh37
NC_000011.8:g.116767063C>T NCBI36
NG_033032.1:g.74360C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014956.5:c.2205C>T MANE Select NP_055771.4:p.Ser735=
ENST00000278935.8:c.2205C>T MANE Select ENSP00000278935.3:p.Ser735=
NM_001271933.1:c.2214C>T NP_001258862.1:p.Ser738=
NM_001271933.2:c.2214C>T NP_001258862.1:p.Ser738=
NM_014956.4:c.2205C>T NP_055771.4:p.Ser735=
ENST00000278935.7:c.2205C>T ENSP00000278935.3:p.Ser735=
ENST00000533223.1:n.3087C>T
ENST00000533675.5:n.2313C>T
ENST00000533706.5:n.1529C>T
XM_005271453.1:c.3891C>T XP_005271510.1:p.Ser1297=
XM_005271456.1:c.2205C>T XP_005271513.1:p.Ser735=
XM_005271457.1:c.2214C>T XP_005271514.1:p.Ser738=
XM_006718788.1:c.3900C>T XP_006718851.1:p.Ser1300=
XM_006718794.1:c.2127C>T XP_006718857.1:p.Ser709=
XM_011542670.1:c.3960C>T XP_011540972.1:p.Ser1320=
XM_011542671.1:c.3960C>T XP_011540973.1:p.Ser1320=
XM_011542672.1:c.3960C>T XP_011540974.1:p.Ser1320=
XM_011542673.1:c.3960C>T XP_011540975.1:p.Ser1320=
XM_011542674.1:c.3951C>T XP_011540976.1:p.Ser1317=
XM_011542675.1:c.3960C>T XP_011540977.1:p.Ser1320=
XM_011542676.1:c.3882C>T XP_011540978.1:p.Ser1294=
XM_011542677.1:c.3822C>T XP_011540979.1:p.Ser1274=
XM_011542678.1:c.3822C>T XP_011540980.1:p.Ser1274=
XM_011542679.1:c.3813C>T XP_011540981.1:p.Ser1271=
XM_011542680.1:c.3714C>T XP_011540982.1:p.Ser1238=
XM_011542681.1:c.3603C>T XP_011540983.1:p.Ser1201=
XM_011542682.1:c.2274C>T XP_011540984.1:p.Ser758=
XM_011542683.1:c.2274C>T XP_011540985.1:p.Ser758=
XM_011542685.1:c.2196C>T XP_011540987.1:p.Ser732=
XM_011542686.1:c.2196C>T XP_011540988.1:p.Ser732=
XM_011542687.1:c.2136C>T XP_011540989.1:p.Ser712=
XM_011542688.1:c.1935C>T XP_011540990.1:p.Ser645=
XM_017017364.1:c.3951C>T XP_016872853.1:p.Ser1317=
XM_017017365.1:c.3951C>T XP_016872854.1:p.Ser1317=
XM_017017366.1:c.3951C>T XP_016872855.1:p.Ser1317=
XM_017017367.1:c.3951C>T XP_016872856.1:p.Ser1317=
XM_017017368.1:c.3951C>T XP_016872857.1:p.Ser1317=
XM_017017369.1:c.3951C>T XP_016872858.1:p.Ser1317=
XM_017017370.1:c.3951C>T XP_016872859.1:p.Ser1317=
XM_017017371.1:c.3873C>T XP_016872860.1:p.Ser1291=
XM_017017372.1:c.3813C>T XP_016872861.1:p.Ser1271=
XM_017017373.2:c.3813C>T XP_016872862.1:p.Ser1271=
XM_017017374.1:c.3813C>T XP_016872863.1:p.Ser1271=
XM_017017375.2:c.3813C>T XP_016872864.1:p.Ser1271=
XM_017017376.1:c.3804C>T XP_016872865.1:p.Ser1268=
XM_017017377.2:c.3705C>T XP_016872866.1:p.Ser1235=
XM_017017378.1:c.3594C>T XP_016872867.1:p.Ser1198=
XM_017017379.1:c.2265C>T XP_016872868.1:p.Ser755=
XM_017017380.1:c.2265C>T XP_016872869.1:p.Ser755=
XM_017017381.1:c.2187C>T XP_016872870.1:p.Ser729=
XM_017017382.1:c.2187C>T XP_016872871.1:p.Ser729=
XM_017017383.1:c.2127C>T XP_016872872.1:p.Ser709=
XM_017017384.1:c.2127C>T XP_016872873.1:p.Ser709=
XM_017017385.1:c.1926C>T XP_016872874.1:p.Ser642=
XM_017017386.1:c.1842C>T XP_016872875.1:p.Ser614=
XR_001747793.1:n.4369C>T
XR_001747794.1:n.4369C>T
XR_002957132.1:n.4369C>T
XR_002957133.1:n.4309C>T
XR_428971.2:n.4171C>T
XR_428971.3:n.4171C>T
XR_947808.1:n.4378C>T
XR_947809.1:n.4378C>T
XR_947810.1:n.4309C>T
XR_947811.1:n.4514C>T