Canonical Allele Identifier: CA6239612
Community Standard Title: NM_014679.5(CEP57):c.808-6A>G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95822493A>G , CM000673.2:g.95822493A>G GRCh38
NC_000011.9:g.95555657A>G , CM000673.1:g.95555657A>G GRCh37
NC_000011.8:g.95195305A>G NCBI36
NG_029829.1:g.37033A>G , LRG_526:g.37033A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014679.5:c.808-6A>G (CEP57) MANE Select NP_055494.2:n.808-6A>G
ENST00000325542.10:c.808-6A>G (CEP57) MANE Select ENSP00000317902.5:n.808-6A>G
NM_001243776.1:c.781-6A>G (CEP57) NP_001230705.1:n.781-6A>G
NM_001243776.2:c.781-6A>G (CEP57) NP_001230705.1:n.781-6A>G
NM_001243777.1:c.807+515A>G (CEP57) NP_001230706.1:n.807+515A>G
NM_001243777.2:c.807+515A>G (CEP57) NP_001230706.1:n.807+515A>G
NM_001363604.1:c.727-6A>G (CEP57) NP_001350533.1:n.727-6A>G
NM_001363604.2:c.727-6A>G (CEP57) NP_001350533.1:n.727-6A>G
NM_014679.4:c.808-6A>G (CEP57) NP_055494.2:n.808-6A>G
ENST00000325486.9:c.807+515A>G (CEP57) ENSP00000317487.5:n.807+515A>G
ENST00000325542.9:c.808-6A>G (CEP57) ENSP00000317902.5:n.808-6A>G
ENST00000535224.1:c.253+515A>G (CEP57)
ENST00000537093.5:c.162+3589A>G (CEP57) ENSP00000444749.1:n.162+3589A>G
ENST00000537677.5:c.727-6A>G (CEP57) ENSP00000441392.1:n.727-6A>G
ENST00000538658.5:c.*509A>G (CEP57) ENSP00000445706.1:n.*509A>G
ENST00000539855.5:c.*587-6A>G (CEP57) ENSP00000437422.1:n.*587-6A>G
ENST00000540830.5:c.*572-6A>G (CEP57) ENSP00000440996.1:n.*572-6A>G
ENST00000541150.5:c.781-6A>G (CEP57) ENSP00000443436.1:n.781-6A>G
ENST00000675896.1:c.*4002T>C (MTMR2) ENSP00000502487.1:n.*4002T>C
XM_006718945.2:c.691-6A>G (CEP57) XP_006719008.1:n.691-6A>G
XM_006718945.3:c.691-6A>G (CEP57) XP_006719008.1:n.691-6A>G
XM_006718946.2:c.699+3589A>G (CEP57) XP_006719009.1:n.699+3589A>G
XM_006718946.3:c.699+3589A>G (CEP57) XP_006719009.1:n.699+3589A>G
XM_017018592.1:c.781-6A>G (CEP57) XP_016874081.1:n.781-6A>G
XM_017018593.2:c.690+515A>G (CEP57) XP_016874082.1:n.690+515A>G
XM_017018594.2:c.582+3589A>G (CEP57) XP_016874083.1:n.582+3589A>G
XM_024448779.1:c.610-6A>G (CEP57) XP_024304547.1:n.610-6A>G
XR_001748050.2:n.1449-6A>G (CEP57)