Canonical Allele Identifier: CA6239588

Gene: CEP57 MTMR2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95821935A>G , CM000673.2:g.95821935A>G	GRCh38
NC_000011.9:g.95555099A>G , CM000673.1:g.95555099A>G	GRCh37
NC_000011.8:g.95194747A>G	NCBI36
NG_029829.1:g.36475A>G , LRG_526:g.36475A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.764A>G (CEP57) MANE Select	NP_055494.2:p.Asn255Ser
ENST00000325542.10:c.764A>G (CEP57) MANE Select	ENSP00000317902.5:p.Asn255Ser
NM_001243776.1:c.737A>G (CEP57)	NP_001230705.1:p.Asn246Ser
NM_001243776.2:c.737A>G (CEP57)	NP_001230705.1:p.Asn246Ser
NM_001243777.1:c.764A>G (CEP57)	NP_001230706.1:p.Asn255Ser
NM_001243777.2:c.764A>G (CEP57)	NP_001230706.1:p.Asn255Ser
NM_001363604.1:c.683A>G (CEP57)	NP_001350533.1:p.Asn228Ser
NM_001363604.2:c.683A>G (CEP57)	NP_001350533.1:p.Asn228Ser
NM_014679.4:c.764A>G (CEP57)	NP_055494.2:p.Asn255Ser
ENST00000325486.9:c.764A>G (CEP57)	ENSP00000317487.5:p.Asn255Ser
ENST00000325542.9:c.764A>G (CEP57)	ENSP00000317902.5:p.Asn255Ser
ENST00000535224.1:c.210A>G (CEP57)
ENST00000537093.5:c.162+3031A>G (CEP57)	ENSP00000444749.1:n.162+3031A>G
ENST00000537677.5:c.683A>G (CEP57)	ENSP00000441392.1:p.Asn228Ser
ENST00000538658.5:c.764A>G (CEP57)	ENSP00000445706.1:p.Asn255Ser
ENST00000539855.5:c.*543A>G (CEP57)	ENSP00000437422.1:n.*543A>G
ENST00000540830.5:c.*528A>G (CEP57)	ENSP00000440996.1:n.*528A>G
ENST00000541150.5:c.737A>G (CEP57)	ENSP00000443436.1:p.Asn246Ser
ENST00000675896.1:c.*4560T>C (MTMR2)	ENSP00000502487.1:n.*4560T>C
XM_006718945.2:c.647A>G (CEP57)	XP_006719008.1:p.Asn216Ser
XM_006718945.3:c.647A>G (CEP57)	XP_006719008.1:p.Asn216Ser
XM_006718946.2:c.699+3031A>G (CEP57)	XP_006719009.1:n.699+3031A>G
XM_006718946.3:c.699+3031A>G (CEP57)	XP_006719009.1:n.699+3031A>G
XM_017018592.1:c.737A>G (CEP57)	XP_016874081.1:p.Asn246Ser
XM_017018593.2:c.647A>G (CEP57)	XP_016874082.1:p.Asn216Ser
XM_017018594.2:c.582+3031A>G (CEP57)	XP_016874083.1:n.582+3031A>G
XM_024448779.1:c.566A>G (CEP57)	XP_024304547.1:p.Asn189Ser
XR_001748050.2:n.992A>G (CEP57)