Canonical Allele Identifier: CA382408102
Community Standard Title: NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95827915C>T , CM000673.2:g.95827915C>T GRCh38
NC_000011.9:g.95561079C>T , CM000673.1:g.95561079C>T GRCh37
NC_000011.8:g.95200727C>T NCBI36
NG_029829.1:g.42455C>T , LRG_526:g.42455C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014679.5:c.1015C>T (CEP57) MANE Select NP_055494.2:p.Arg339Ter
ENST00000325542.10:c.1015C>T (CEP57) MANE Select ENSP00000317902.5:p.Arg339Ter
NM_001243776.1:c.988C>T (CEP57) NP_001230705.1:p.Arg330Ter
NM_001243776.2:c.988C>T (CEP57) NP_001230705.1:p.Arg330Ter
NM_001243777.1:c.937C>T (CEP57) NP_001230706.1:p.Arg313Ter
NM_001243777.2:c.937C>T (CEP57) NP_001230706.1:p.Arg313Ter
NM_001363604.1:c.934C>T (CEP57) NP_001350533.1:p.Arg312Ter
NM_001363604.2:c.934C>T (CEP57) NP_001350533.1:p.Arg312Ter
NM_014679.4:c.1015C>T (CEP57) NP_055494.2:p.Arg339Ter
ENST00000325486.9:c.937C>T (CEP57) ENSP00000317487.5:p.Arg313Ter
ENST00000325542.9:c.1015C>T (CEP57) ENSP00000317902.5:p.Arg339Ter
ENST00000535224.1:c.383C>T (CEP57)
ENST00000537093.5:c.292C>T (CEP57) ENSP00000444749.1:p.Arg98Ter
ENST00000537677.5:c.934C>T (CEP57) ENSP00000441392.1:p.Arg312Ter
ENST00000538158.1:n.2233C>T (CEP57)
ENST00000539855.5:c.*794C>T (CEP57) ENSP00000437422.1:n.*794C>T
ENST00000540830.5:c.*779C>T (CEP57) ENSP00000440996.1:n.*779C>T
ENST00000541150.5:c.988C>T (CEP57) ENSP00000443436.1:p.Arg330Ter
ENST00000675896.1:c.*2428+2633G>A (MTMR2) ENSP00000502487.1:n.*2428+2633G>A
XM_006718945.2:c.898C>T (CEP57) XP_006719008.1:p.Arg300Ter
XM_006718945.3:c.898C>T (CEP57) XP_006719008.1:p.Arg300Ter
XM_006718946.2:c.829C>T (CEP57) XP_006719009.1:p.Arg277Ter
XM_006718946.3:c.829C>T (CEP57) XP_006719009.1:p.Arg277Ter
XM_017018592.1:c.988C>T (CEP57) XP_016874081.1:p.Arg330Ter
XM_017018593.2:c.820C>T (CEP57) XP_016874082.1:p.Arg274Ter
XM_017018594.2:c.712C>T (CEP57) XP_016874083.1:p.Arg238Ter
XM_024448779.1:c.817C>T (CEP57) XP_024304547.1:p.Arg273Ter
XR_001748050.2:n.1656C>T (CEP57)