Canonical Allele Identifier: CA226586269

Gene: CEP57 MTMR2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95827883A>G , CM000673.2:g.95827883A>G	GRCh38
NC_000011.9:g.95561047A>G , CM000673.1:g.95561047A>G	GRCh37
NC_000011.8:g.95200695A>G	NCBI36
NG_029829.1:g.42423A>G , LRG_526:g.42423A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.983A>G (CEP57) MANE Select	NP_055494.2:p.Asn328Ser
ENST00000325542.10:c.983A>G (CEP57) MANE Select	ENSP00000317902.5:p.Asn328Ser
NM_001243776.1:c.956A>G (CEP57)	NP_001230705.1:p.Asn319Ser
NM_001243776.2:c.956A>G (CEP57)	NP_001230705.1:p.Asn319Ser
NM_001243777.1:c.905A>G (CEP57)	NP_001230706.1:p.Asn302Ser
NM_001243777.2:c.905A>G (CEP57)	NP_001230706.1:p.Asn302Ser
NM_001363604.1:c.902A>G (CEP57)	NP_001350533.1:p.Asn301Ser
NM_001363604.2:c.902A>G (CEP57)	NP_001350533.1:p.Asn301Ser
NM_014679.4:c.983A>G (CEP57)	NP_055494.2:p.Asn328Ser
ENST00000325486.9:c.905A>G (CEP57)	ENSP00000317487.5:p.Asn302Ser
ENST00000325542.9:c.983A>G (CEP57)	ENSP00000317902.5:p.Asn328Ser
ENST00000535224.1:c.351A>G (CEP57)
ENST00000537093.5:c.260A>G (CEP57)	ENSP00000444749.1:p.Asn87Ser
ENST00000537677.5:c.902A>G (CEP57)	ENSP00000441392.1:p.Asn301Ser
ENST00000538158.1:n.2201A>G (CEP57)
ENST00000539855.5:c.*762A>G (CEP57)	ENSP00000437422.1:n.*762A>G
ENST00000540830.5:c.*747A>G (CEP57)	ENSP00000440996.1:n.*747A>G
ENST00000541150.5:c.956A>G (CEP57)	ENSP00000443436.1:p.Asn319Ser
ENST00000675896.1:c.*2428+2665T>C (MTMR2)	ENSP00000502487.1:n.*2428+2665T>C
XM_006718945.2:c.866A>G (CEP57)	XP_006719008.1:p.Asn289Ser
XM_006718945.3:c.866A>G (CEP57)	XP_006719008.1:p.Asn289Ser
XM_006718946.2:c.797A>G (CEP57)	XP_006719009.1:p.Asn266Ser
XM_006718946.3:c.797A>G (CEP57)	XP_006719009.1:p.Asn266Ser
XM_017018592.1:c.956A>G (CEP57)	XP_016874081.1:p.Asn319Ser
XM_017018593.2:c.788A>G (CEP57)	XP_016874082.1:p.Asn263Ser
XM_017018594.2:c.680A>G (CEP57)	XP_016874083.1:p.Asn227Ser
XM_024448779.1:c.785A>G (CEP57)	XP_024304547.1:p.Asn262Ser
XR_001748050.2:n.1624A>G (CEP57)