Canonical Allele Identifier: CA382405301
Community Standard Title: NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95821949A>T , CM000673.2:g.95821949A>T GRCh38
NC_000011.9:g.95555113A>T , CM000673.1:g.95555113A>T GRCh37
NC_000011.8:g.95194761A>T NCBI36
NG_029829.1:g.36489A>T , LRG_526:g.36489A>T

Transcript Alleles

HGVS Amino-acid Change
NM_014679.5:c.778A>T (CEP57) MANE Select NP_055494.2:p.Lys260Ter
ENST00000325542.10:c.778A>T (CEP57) MANE Select ENSP00000317902.5:p.Lys260Ter
NM_001243776.1:c.751A>T (CEP57) NP_001230705.1:p.Lys251Ter
NM_001243776.2:c.751A>T (CEP57) NP_001230705.1:p.Lys251Ter
NM_001243777.1:c.778A>T (CEP57) NP_001230706.1:p.Lys260Ter
NM_001243777.2:c.778A>T (CEP57) NP_001230706.1:p.Lys260Ter
NM_001363604.1:c.697A>T (CEP57) NP_001350533.1:p.Lys233Ter
NM_001363604.2:c.697A>T (CEP57) NP_001350533.1:p.Lys233Ter
NM_014679.4:c.778A>T (CEP57) NP_055494.2:p.Lys260Ter
ENST00000325486.9:c.778A>T (CEP57) ENSP00000317487.5:p.Lys260Ter
ENST00000325542.9:c.778A>T (CEP57) ENSP00000317902.5:p.Lys260Ter
ENST00000535224.1:c.224A>T (CEP57)
ENST00000537093.5:c.162+3045A>T (CEP57) ENSP00000444749.1:n.162+3045A>T
ENST00000537677.5:c.697A>T (CEP57) ENSP00000441392.1:p.Lys233Ter
ENST00000538658.5:c.778A>T (CEP57) ENSP00000445706.1:p.Lys260Ter
ENST00000539855.5:c.*557A>T (CEP57) ENSP00000437422.1:n.*557A>T
ENST00000540830.5:c.*542A>T (CEP57) ENSP00000440996.1:n.*542A>T
ENST00000541150.5:c.751A>T (CEP57) ENSP00000443436.1:p.Lys251Ter
ENST00000675896.1:c.*4546T>A (MTMR2) ENSP00000502487.1:n.*4546T>A
XM_006718945.2:c.661A>T (CEP57) XP_006719008.1:p.Lys221Ter
XM_006718945.3:c.661A>T (CEP57) XP_006719008.1:p.Lys221Ter
XM_006718946.2:c.699+3045A>T (CEP57) XP_006719009.1:n.699+3045A>T
XM_006718946.3:c.699+3045A>T (CEP57) XP_006719009.1:n.699+3045A>T
XM_017018592.1:c.751A>T (CEP57) XP_016874081.1:p.Lys251Ter
XM_017018593.2:c.661A>T (CEP57) XP_016874082.1:p.Lys221Ter
XM_017018594.2:c.582+3045A>T (CEP57) XP_016874083.1:n.582+3045A>T
XM_024448779.1:c.580A>T (CEP57) XP_024304547.1:p.Lys194Ter
XR_001748050.2:n.1006A>T (CEP57)