Canonical Allele Identifier: CA476304059

Gene: CEP57 MTMR2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95829187T>C , CM000673.2:g.95829187T>C	GRCh38
NC_000011.9:g.95562351T>C , CM000673.1:g.95562351T>C	GRCh37
NC_000011.8:g.95201999T>C	NCBI36
NG_029829.1:g.43727T>C , LRG_526:g.43727T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.1128T>C (CEP57) MANE Select	NP_055494.2:p.Phe376=
ENST00000325542.10:c.1128T>C (CEP57) MANE Select	ENSP00000317902.5:p.Phe376=
NM_001243776.1:c.1101T>C (CEP57)	NP_001230705.1:p.Phe367=
NM_001243776.2:c.1101T>C (CEP57)	NP_001230705.1:p.Phe367=
NM_001243777.1:c.1050T>C (CEP57)	NP_001230706.1:p.Phe350=
NM_001243777.2:c.1050T>C (CEP57)	NP_001230706.1:p.Phe350=
NM_001363604.1:c.1047T>C (CEP57)	NP_001350533.1:p.Phe349=
NM_001363604.2:c.1047T>C (CEP57)	NP_001350533.1:p.Phe349=
NM_014679.4:c.1128T>C (CEP57)	NP_055494.2:p.Phe376=
ENST00000325486.9:c.1050T>C (CEP57)	ENSP00000317487.5:p.Phe350=
ENST00000325542.9:c.1128T>C (CEP57)	ENSP00000317902.5:p.Phe376=
ENST00000535224.1:c.496T>C (CEP57)
ENST00000537677.5:c.1047T>C (CEP57)	ENSP00000441392.1:p.Phe349=
ENST00000538158.1:n.2346T>C (CEP57)
ENST00000539855.5:c.*907T>C (CEP57)	ENSP00000437422.1:n.*907T>C
ENST00000540830.5:c.*892T>C (CEP57)	ENSP00000440996.1:n.*892T>C
ENST00000541150.5:c.1101T>C (CEP57)	ENSP00000443436.1:p.Phe367=
ENST00000675896.1:c.*2428+1361A>G (MTMR2)	ENSP00000502487.1:n.*2428+1361A>G
XM_006718945.2:c.1011T>C (CEP57)	XP_006719008.1:p.Phe337=
XM_006718945.3:c.1011T>C (CEP57)	XP_006719008.1:p.Phe337=
XM_006718946.2:c.942T>C (CEP57)	XP_006719009.1:p.Phe314=
XM_006718946.3:c.942T>C (CEP57)	XP_006719009.1:p.Phe314=
XM_017018592.1:c.1101T>C (CEP57)	XP_016874081.1:p.Phe367=
XM_017018593.2:c.933T>C (CEP57)	XP_016874082.1:p.Phe311=
XM_017018594.2:c.825T>C (CEP57)	XP_016874083.1:p.Phe275=
XM_024448779.1:c.930T>C (CEP57)	XP_024304547.1:p.Phe310=
XR_001748050.2:n.1769T>C (CEP57)