Canonical Allele Identifier: CA6239675

Gene: CEP57 MTMR2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95827963G>A , CM000673.2:g.95827963G>A	GRCh38
NC_000011.9:g.95561127G>A , CM000673.1:g.95561127G>A	GRCh37
NC_000011.8:g.95200775G>A	NCBI36
NG_029829.1:g.42503G>A , LRG_526:g.42503G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.1063G>A (CEP57) MANE Select	NP_055494.2:p.Gly355Ser
ENST00000325542.10:c.1063G>A (CEP57) MANE Select	ENSP00000317902.5:p.Gly355Ser
NM_001243776.1:c.1036G>A (CEP57)	NP_001230705.1:p.Gly346Ser
NM_001243776.2:c.1036G>A (CEP57)	NP_001230705.1:p.Gly346Ser
NM_001243777.1:c.985G>A (CEP57)	NP_001230706.1:p.Gly329Ser
NM_001243777.2:c.985G>A (CEP57)	NP_001230706.1:p.Gly329Ser
NM_001363604.1:c.982G>A (CEP57)	NP_001350533.1:p.Gly328Ser
NM_001363604.2:c.982G>A (CEP57)	NP_001350533.1:p.Gly328Ser
NM_014679.4:c.1063G>A (CEP57)	NP_055494.2:p.Gly355Ser
ENST00000325486.9:c.985G>A (CEP57)	ENSP00000317487.5:p.Gly329Ser
ENST00000325542.9:c.1063G>A (CEP57)	ENSP00000317902.5:p.Gly355Ser
ENST00000535224.1:c.431G>A (CEP57)
ENST00000537093.5:c.340G>A (CEP57)	ENSP00000444749.1:p.Gly114Ser
ENST00000537677.5:c.982G>A (CEP57)	ENSP00000441392.1:p.Gly328Ser
ENST00000538158.1:n.2281G>A (CEP57)
ENST00000539855.5:c.*842G>A (CEP57)	ENSP00000437422.1:n.*842G>A
ENST00000540830.5:c.*827G>A (CEP57)	ENSP00000440996.1:n.*827G>A
ENST00000541150.5:c.1036G>A (CEP57)	ENSP00000443436.1:p.Gly346Ser
ENST00000675896.1:c.*2428+2585C>T (MTMR2)	ENSP00000502487.1:n.*2428+2585C>T
XM_006718945.2:c.946G>A (CEP57)	XP_006719008.1:p.Gly316Ser
XM_006718945.3:c.946G>A (CEP57)	XP_006719008.1:p.Gly316Ser
XM_006718946.2:c.877G>A (CEP57)	XP_006719009.1:p.Gly293Ser
XM_006718946.3:c.877G>A (CEP57)	XP_006719009.1:p.Gly293Ser
XM_017018592.1:c.1036G>A (CEP57)	XP_016874081.1:p.Gly346Ser
XM_017018593.2:c.868G>A (CEP57)	XP_016874082.1:p.Gly290Ser
XM_017018594.2:c.760G>A (CEP57)	XP_016874083.1:p.Gly254Ser
XM_024448779.1:c.865G>A (CEP57)	XP_024304547.1:p.Gly289Ser
XR_001748050.2:n.1704G>A (CEP57)