Canonical Allele Identifier: CA382408601
Community Standard Title: NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95828017C>T , CM000673.2:g.95828017C>T GRCh38
NC_000011.9:g.95561181C>T , CM000673.1:g.95561181C>T GRCh37
NC_000011.8:g.95200829C>T NCBI36
NG_029829.1:g.42557C>T , LRG_526:g.42557C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014679.5:c.1117C>T (CEP57) MANE Select NP_055494.2:p.Gln373Ter
ENST00000325542.10:c.1117C>T (CEP57) MANE Select ENSP00000317902.5:p.Gln373Ter
NM_001243776.1:c.1090C>T (CEP57) NP_001230705.1:p.Gln364Ter
NM_001243776.2:c.1090C>T (CEP57) NP_001230705.1:p.Gln364Ter
NM_001243777.1:c.1039C>T (CEP57) NP_001230706.1:p.Gln347Ter
NM_001243777.2:c.1039C>T (CEP57) NP_001230706.1:p.Gln347Ter
NM_001363604.1:c.1036C>T (CEP57) NP_001350533.1:p.Gln346Ter
NM_001363604.2:c.1036C>T (CEP57) NP_001350533.1:p.Gln346Ter
NM_014679.4:c.1117C>T (CEP57) NP_055494.2:p.Gln373Ter
ENST00000325486.9:c.1039C>T (CEP57) ENSP00000317487.5:p.Gln347Ter
ENST00000325542.9:c.1117C>T (CEP57) ENSP00000317902.5:p.Gln373Ter
ENST00000535224.1:c.485C>T (CEP57)
ENST00000537093.5:c.394C>T (CEP57) ENSP00000444749.1:p.Gln132Ter
ENST00000537677.5:c.1036C>T (CEP57) ENSP00000441392.1:p.Gln346Ter
ENST00000538158.1:n.2335C>T (CEP57)
ENST00000539855.5:c.*896C>T (CEP57) ENSP00000437422.1:n.*896C>T
ENST00000540830.5:c.*881C>T (CEP57) ENSP00000440996.1:n.*881C>T
ENST00000541150.5:c.1090C>T (CEP57) ENSP00000443436.1:p.Gln364Ter
ENST00000675896.1:c.*2428+2531G>A (MTMR2) ENSP00000502487.1:n.*2428+2531G>A
XM_006718945.2:c.1000C>T (CEP57) XP_006719008.1:p.Gln334Ter
XM_006718945.3:c.1000C>T (CEP57) XP_006719008.1:p.Gln334Ter
XM_006718946.2:c.931C>T (CEP57) XP_006719009.1:p.Gln311Ter
XM_006718946.3:c.931C>T (CEP57) XP_006719009.1:p.Gln311Ter
XM_017018592.1:c.1090C>T (CEP57) XP_016874081.1:p.Gln364Ter
XM_017018593.2:c.922C>T (CEP57) XP_016874082.1:p.Gln308Ter
XM_017018594.2:c.814C>T (CEP57) XP_016874083.1:p.Gln272Ter
XM_024448779.1:c.919C>T (CEP57) XP_024304547.1:p.Gln307Ter
XR_001748050.2:n.1758C>T (CEP57)