Canonical Allele Identifier: CA6239769
Community Standard Title: NM_014679.5(CEP57):c.1273C>T (p.Leu425=)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95831026C>T , CM000673.2:g.95831026C>T GRCh38
NC_000011.9:g.95564190C>T , CM000673.1:g.95564190C>T GRCh37
NC_000011.8:g.95203838C>T NCBI36
NG_008333.1:g.98182G>A , LRG_257:g.98182G>A
NG_029829.1:g.45566C>T , LRG_526:g.45566C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014679.5:c.1273C>T (CEP57) MANE Select NP_055494.2:p.Leu425=
ENST00000325542.10:c.1273C>T (CEP57) MANE Select ENSP00000317902.5:p.Leu425=
NM_001243776.1:c.1246C>T (CEP57) NP_001230705.1:p.Leu416=
NM_001243776.2:c.1246C>T (CEP57) NP_001230705.1:p.Leu416=
NM_001243777.1:c.1195C>T (CEP57) NP_001230706.1:p.Leu399=
NM_001243777.2:c.1195C>T (CEP57) NP_001230706.1:p.Leu399=
NM_001363604.1:c.1192C>T (CEP57) NP_001350533.1:p.Leu398=
NM_001363604.2:c.1192C>T (CEP57) NP_001350533.1:p.Leu398=
NM_014679.4:c.1273C>T (CEP57) NP_055494.2:p.Leu425=
ENST00000325486.9:c.1195C>T (CEP57) ENSP00000317487.5:p.Leu399=
ENST00000325542.9:c.1273C>T (CEP57) ENSP00000317902.5:p.Leu425=
ENST00000535224.1:c.641C>T (CEP57)
ENST00000537677.5:c.1192C>T (CEP57) ENSP00000441392.1:p.Leu398=
ENST00000538158.1:n.2491C>T (CEP57)
ENST00000539855.5:c.*1052C>T (CEP57) ENSP00000437422.1:n.*1052C>T
ENST00000540830.5:c.*1037C>T (CEP57) ENSP00000440996.1:n.*1037C>T
ENST00000541150.5:c.1246C>T (CEP57) ENSP00000443436.1:p.Leu416=
ENST00000675896.1:c.*1950G>A (MTMR2) ENSP00000502487.1:n.*1950G>A
XM_006718945.2:c.1156C>T (CEP57) XP_006719008.1:p.Leu386=
XM_006718945.3:c.1156C>T (CEP57) XP_006719008.1:p.Leu386=
XM_006718946.2:c.1087C>T (CEP57) XP_006719009.1:p.Leu363=
XM_006718946.3:c.1087C>T (CEP57) XP_006719009.1:p.Leu363=
XM_017018592.1:c.1246C>T (CEP57) XP_016874081.1:p.Leu416=
XM_017018593.2:c.1078C>T (CEP57) XP_016874082.1:p.Leu360=
XM_017018594.2:c.970C>T (CEP57) XP_016874083.1:p.Leu324=
XM_024448779.1:c.1075C>T (CEP57) XP_024304547.1:p.Leu359=
XR_001748050.2:n.1914C>T (CEP57)