Canonical Allele Identifier: CA6295077

Gene: CEP164

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117392628G>A , CM000673.2:g.117392628G>A	GRCh38
NC_000011.9:g.117263344G>A , CM000673.1:g.117263344G>A	GRCh37
NC_000011.8:g.116768554G>A	NCBI36
NG_033032.1:g.75851G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014956.5:c.2493+1G>A MANE Select	NP_055771.4:n.2493+1G>A
ENST00000278935.8:c.2493+1G>A MANE Select	ENSP00000278935.3:n.2493+1G>A
NM_001271933.1:c.2502+1G>A	NP_001258862.1:n.2502+1G>A
NM_001271933.2:c.2502+1G>A	NP_001258862.1:n.2502+1G>A
NM_014956.4:c.2493+1G>A	NP_055771.4:n.2493+1G>A
ENST00000278935.7:c.2493+1G>A	ENSP00000278935.3:n.2493+1G>A
ENST00000533223.1:n.3375+1G>A
ENST00000533675.5:n.2601+1G>A
ENST00000533706.5:n.1817+1G>A
XM_005271453.1:c.4179+1G>A	XP_005271510.1:n.4179+1G>A
XM_005271456.1:c.2493+1G>A	XP_005271513.1:n.2493+1G>A
XM_005271457.1:c.2502+1G>A	XP_005271514.1:n.2502+1G>A
XM_006718788.1:c.4188+1G>A	XP_006718851.1:n.4188+1G>A
XM_006718794.1:c.2415+1G>A	XP_006718857.1:n.2415+1G>A
XM_011542670.1:c.4248+1G>A	XP_011540972.1:n.4248+1G>A
XM_011542671.1:c.4248+1G>A	XP_011540973.1:n.4248+1G>A
XM_011542672.1:c.4248+1G>A	XP_011540974.1:n.4248+1G>A
XM_011542673.1:c.4248+1G>A	XP_011540975.1:n.4248+1G>A
XM_011542674.1:c.4239+1G>A	XP_011540976.1:n.4239+1G>A
XM_011542675.1:c.4248+1G>A	XP_011540977.1:n.4248+1G>A
XM_011542676.1:c.4170+1G>A	XP_011540978.1:n.4170+1G>A
XM_011542677.1:c.4110+1G>A	XP_011540979.1:n.4110+1G>A
XM_011542678.1:c.4110+1G>A	XP_011540980.1:n.4110+1G>A
XM_011542679.1:c.4101+1G>A	XP_011540981.1:n.4101+1G>A
XM_011542680.1:c.4002+1G>A	XP_011540982.1:n.4002+1G>A
XM_011542681.1:c.3891+1G>A	XP_011540983.1:n.3891+1G>A
XM_011542682.1:c.2562+1G>A	XP_011540984.1:n.2562+1G>A
XM_011542683.1:c.2562+1G>A	XP_011540985.1:n.2562+1G>A
XM_011542685.1:c.2484+1G>A	XP_011540987.1:n.2484+1G>A
XM_011542686.1:c.2484+1G>A	XP_011540988.1:n.2484+1G>A
XM_011542687.1:c.2424+1G>A	XP_011540989.1:n.2424+1G>A
XM_011542688.1:c.2223+1G>A	XP_011540990.1:n.2223+1G>A
XM_017017364.1:c.4239+1G>A	XP_016872853.1:n.4239+1G>A
XM_017017365.1:c.4239+1G>A	XP_016872854.1:n.4239+1G>A
XM_017017366.1:c.4239+1G>A	XP_016872855.1:n.4239+1G>A
XM_017017367.1:c.4239+1G>A	XP_016872856.1:n.4239+1G>A
XM_017017368.1:c.4239+1G>A	XP_016872857.1:n.4239+1G>A
XM_017017369.1:c.4239+1G>A	XP_016872858.1:n.4239+1G>A
XM_017017370.1:c.4239+1G>A	XP_016872859.1:n.4239+1G>A
XM_017017371.1:c.4161+1G>A	XP_016872860.1:n.4161+1G>A
XM_017017372.1:c.4101+1G>A	XP_016872861.1:n.4101+1G>A
XM_017017373.2:c.4101+1G>A	XP_016872862.1:n.4101+1G>A
XM_017017374.1:c.4101+1G>A	XP_016872863.1:n.4101+1G>A
XM_017017375.2:c.4101+1G>A	XP_016872864.1:n.4101+1G>A
XM_017017376.1:c.4092+1G>A	XP_016872865.1:n.4092+1G>A
XM_017017377.2:c.3993+1G>A	XP_016872866.1:n.3993+1G>A
XM_017017378.1:c.3882+1G>A	XP_016872867.1:n.3882+1G>A
XM_017017379.1:c.2553+1G>A	XP_016872868.1:n.2553+1G>A
XM_017017380.1:c.2553+1G>A	XP_016872869.1:n.2553+1G>A
XM_017017381.1:c.2475+1G>A	XP_016872870.1:n.2475+1G>A
XM_017017382.1:c.2475+1G>A	XP_016872871.1:n.2475+1G>A
XM_017017383.1:c.2415+1G>A	XP_016872872.1:n.2415+1G>A
XM_017017384.1:c.2415+1G>A	XP_016872873.1:n.2415+1G>A
XM_017017385.1:c.2214+1G>A	XP_016872874.1:n.2214+1G>A
XM_017017386.1:c.2130+1G>A	XP_016872875.1:n.2130+1G>A
XR_001747793.1:n.4657+1G>A
XR_001747794.1:n.4657+1G>A
XR_002957132.1:n.4657+1G>A
XR_002957133.1:n.4597+1G>A
XR_428971.2:n.4459+1G>A
XR_428971.3:n.4459+1G>A
XR_947808.1:n.4666+1G>A
XR_947809.1:n.4666+1G>A
XR_947810.1:n.4597+1G>A
XR_947811.1:n.4802+1G>A