Canonical Allele Identifier: CA382423616

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95818825A>G , CM000673.2:g.95818825A>G	GRCh38
NC_000011.9:g.95551989A>G , CM000673.1:g.95551989A>G	GRCh37
NC_000011.8:g.95191637A>G	NCBI36
NG_029829.1:g.33365A>G , LRG_526:g.33365A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.622-2A>G MANE Select	NP_055494.2:n.622-2A>G
ENST00000325542.10:c.622-2A>G MANE Select	ENSP00000317902.5:n.622-2A>G
NM_001243776.1:c.595-2A>G	NP_001230705.1:n.595-2A>G
NM_001243776.2:c.595-2A>G	NP_001230705.1:n.595-2A>G
NM_001243777.1:c.622-2A>G	NP_001230706.1:n.622-2A>G
NM_001243777.2:c.622-2A>G	NP_001230706.1:n.622-2A>G
NM_001363604.1:c.541-2A>G	NP_001350533.1:n.541-2A>G
NM_001363604.2:c.541-2A>G	NP_001350533.1:n.541-2A>G
NM_014679.4:c.622-2A>G	NP_055494.2:n.622-2A>G
ENST00000325486.9:c.622-2A>G	ENSP00000317487.5:n.622-2A>G
ENST00000325542.9:c.622-2A>G	ENSP00000317902.5:n.622-2A>G
ENST00000535224.1:c.68-2A>G
ENST00000537093.5:c.85-2A>G	ENSP00000444749.1:n.85-2A>G
ENST00000537677.5:c.541-2A>G	ENSP00000441392.1:n.541-2A>G
ENST00000538658.5:c.622-2A>G	ENSP00000445706.1:n.622-2A>G
ENST00000539855.5:c.*401-2A>G	ENSP00000437422.1:n.*401-2A>G
ENST00000540830.5:c.*386-2A>G	ENSP00000440996.1:n.*386-2A>G
ENST00000541150.5:c.595-2A>G	ENSP00000443436.1:n.595-2A>G
ENST00000541365.5:c.541-2A>G	ENSP00000445821.1:n.541-2A>G
XM_006718945.2:c.505-2A>G	XP_006719008.1:n.505-2A>G
XM_006718945.3:c.505-2A>G	XP_006719008.1:n.505-2A>G
XM_006718946.2:c.622-2A>G	XP_006719009.1:n.622-2A>G
XM_006718946.3:c.622-2A>G	XP_006719009.1:n.622-2A>G
XM_017018592.1:c.595-2A>G	XP_016874081.1:n.595-2A>G
XM_017018593.2:c.505-2A>G	XP_016874082.1:n.505-2A>G
XM_017018594.2:c.505-2A>G	XP_016874083.1:n.505-2A>G
XM_024448779.1:c.424-2A>G	XP_024304547.1:n.424-2A>G
XR_001748050.2:n.850-2A>G