Canonical Allele Identifier: CA6239796

Gene: CEP57 MTMR2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95831237G>A , CM000673.2:g.95831237G>A	GRCh38
NC_000011.9:g.95564401G>A , CM000673.1:g.95564401G>A	GRCh37
NC_000011.8:g.95204049G>A	NCBI36
NG_008333.1:g.97971C>T , LRG_257:g.97971C>T
NG_029829.1:g.45777G>A , LRG_526:g.45777G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.1484G>A (CEP57) MANE Select	NP_055494.2:p.Ser495Asn
ENST00000325542.10:c.1484G>A (CEP57) MANE Select	ENSP00000317902.5:p.Ser495Asn
NM_001243776.1:c.1457G>A (CEP57)	NP_001230705.1:p.Ser486Asn
NM_001243776.2:c.1457G>A (CEP57)	NP_001230705.1:p.Ser486Asn
NM_001243777.1:c.1406G>A (CEP57)	NP_001230706.1:p.Ser469Asn
NM_001243777.2:c.1406G>A (CEP57)	NP_001230706.1:p.Ser469Asn
NM_001363604.1:c.1403G>A (CEP57)	NP_001350533.1:p.Ser468Asn
NM_001363604.2:c.1403G>A (CEP57)	NP_001350533.1:p.Ser468Asn
NM_014679.4:c.1484G>A (CEP57)	NP_055494.2:p.Ser495Asn
ENST00000325486.9:c.1406G>A (CEP57)	ENSP00000317487.5:p.Ser469Asn
ENST00000325542.9:c.1484G>A (CEP57)	ENSP00000317902.5:p.Ser495Asn
ENST00000537677.5:c.1403G>A (CEP57)	ENSP00000441392.1:p.Ser468Asn
ENST00000539855.5:c.*1263G>A (CEP57)	ENSP00000437422.1:n.*1263G>A
ENST00000540830.5:c.*1248G>A (CEP57)	ENSP00000440996.1:n.*1248G>A
ENST00000541150.5:c.1457G>A (CEP57)	ENSP00000443436.1:p.Ser486Asn
ENST00000675896.1:c.*1815-76C>T (MTMR2)	ENSP00000502487.1:n.*1815-76C>T
XM_006718945.2:c.1367G>A (CEP57)	XP_006719008.1:p.Ser456Asn
XM_006718945.3:c.1367G>A (CEP57)	XP_006719008.1:p.Ser456Asn
XM_006718946.2:c.1298G>A (CEP57)	XP_006719009.1:p.Ser433Asn
XM_006718946.3:c.1298G>A (CEP57)	XP_006719009.1:p.Ser433Asn
XM_017018592.1:c.1457G>A (CEP57)	XP_016874081.1:p.Ser486Asn
XM_017018593.2:c.1289G>A (CEP57)	XP_016874082.1:p.Ser430Asn
XM_017018594.2:c.1181G>A (CEP57)	XP_016874083.1:p.Ser394Asn
XM_024448779.1:c.1286G>A (CEP57)	XP_024304547.1:p.Ser429Asn
XR_001748050.2:n.2125G>A (CEP57)