Canonical Allele Identifier: CA6295299
Gene: CEP164 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117395634C>G , CM000673.2:g.117395634C>G GRCh38
NC_000011.9:g.117266350C>G , CM000673.1:g.117266350C>G GRCh37
NC_000011.8:g.116771560C>G NCBI36
NG_033032.1:g.78857C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278935.8:c.3001C>G MANE Select ENSP00000278935.3:p.Leu1001Val
ENST00000278935.7:c.3001C>G ENSP00000278935.3:p.Leu1001Val
ENST00000533223.1:n.3883C>G
ENST00000533675.5:n.3228C>G
ENST00000533706.5:n.2325C>G
NM_001271933.1:c.3010C>G NP_001258862.1:p.Leu1004Val
NM_014956.4:c.3001C>G NP_055771.4:p.Leu1001Val
XM_005271453.1:c.4687C>G XP_005271510.1:p.Leu1563Val
XM_005271456.1:c.3001C>G XP_005271513.1:p.Leu1001Val
XM_005271457.1:c.3010C>G XP_005271514.1:p.Leu1004Val
XM_006718788.1:c.4696C>G XP_006718851.1:p.Leu1566Val
XM_006718794.1:c.2923C>G XP_006718857.1:p.Leu975Val
XM_011542670.1:c.4756C>G XP_011540972.1:p.Leu1586Val
XM_011542671.1:c.4756C>G XP_011540973.1:p.Leu1586Val
XM_011542672.1:c.4756C>G XP_011540974.1:p.Leu1586Val
XM_011542673.1:c.4756C>G XP_011540975.1:p.Leu1586Val
XM_011542674.1:c.4747C>G XP_011540976.1:p.Leu1583Val
XM_011542675.1:c.4756C>G XP_011540977.1:p.Leu1586Val
XM_011542676.1:c.4678C>G XP_011540978.1:p.Leu1560Val
XM_011542677.1:c.4618C>G XP_011540979.1:p.Leu1540Val
XM_011542678.1:c.4618C>G XP_011540980.1:p.Leu1540Val
XM_011542679.1:c.4609C>G XP_011540981.1:p.Leu1537Val
XM_011542680.1:c.4510C>G XP_011540982.1:p.Leu1504Val
XM_011542681.1:c.4399C>G XP_011540983.1:p.Leu1467Val
XM_011542682.1:c.3070C>G XP_011540984.1:p.Leu1024Val
XM_011542683.1:c.3070C>G XP_011540985.1:p.Leu1024Val
XM_011542685.1:c.2992C>G XP_011540987.1:p.Leu998Val
XM_011542686.1:c.2992C>G XP_011540988.1:p.Leu998Val
XM_011542687.1:c.2932C>G XP_011540989.1:p.Leu978Val
XM_011542688.1:c.2731C>G XP_011540990.1:p.Leu911Val
XR_428971.2:n.5086C>G
XR_947808.1:n.5174C>G
XR_947809.1:n.5174C>G
XR_947810.1:n.5105C>G
XM_017017364.1:c.4747C>G XP_016872853.1:p.Leu1583Val
XM_017017365.1:c.4747C>G XP_016872854.1:p.Leu1583Val
XM_017017366.1:c.4747C>G XP_016872855.1:p.Leu1583Val
XM_017017367.1:c.4747C>G XP_016872856.1:p.Leu1583Val
XM_017017368.1:c.4747C>G XP_016872857.1:p.Leu1583Val
XM_017017369.1:c.4747C>G XP_016872858.1:p.Leu1583Val
XM_017017370.1:c.4747C>G XP_016872859.1:p.Leu1583Val
XM_017017371.1:c.4669C>G XP_016872860.1:p.Leu1557Val
XM_017017372.1:c.4609C>G XP_016872861.1:p.Leu1537Val
XM_017017373.2:c.4609C>G XP_016872862.1:p.Leu1537Val
XM_017017374.1:c.4609C>G XP_016872863.1:p.Leu1537Val
XM_017017375.2:c.4609C>G XP_016872864.1:p.Leu1537Val
XM_017017376.1:c.4600C>G XP_016872865.1:p.Leu1534Val
XM_017017377.2:c.4501C>G XP_016872866.1:p.Leu1501Val
XM_017017378.1:c.4390C>G XP_016872867.1:p.Leu1464Val
XM_017017379.1:c.3061C>G XP_016872868.1:p.Leu1021Val
XM_017017380.1:c.3061C>G XP_016872869.1:p.Leu1021Val
XM_017017381.1:c.2983C>G XP_016872870.1:p.Leu995Val
XM_017017382.1:c.2983C>G XP_016872871.1:p.Leu995Val
XM_017017383.1:c.2923C>G XP_016872872.1:p.Leu975Val
XM_017017384.1:c.2923C>G XP_016872873.1:p.Leu975Val
XM_017017385.1:c.2722C>G XP_016872874.1:p.Leu908Val
XM_017017386.1:c.2638C>G XP_016872875.1:p.Leu880Val
XR_001747793.1:n.5165C>G
XR_001747794.1:n.5165C>G
XR_002957132.1:n.5165C>G
XR_002957133.1:n.5105C>G
XR_428971.3:n.5086C>G
NM_014956.5:c.3001C>G MANE Select NP_055771.4:p.Leu1001Val
NM_001271933.2:c.3010C>G NP_001258862.1:p.Leu1004Val