Canonical Allele Identifier: CA382424168

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95818905G>T , CM000673.2:g.95818905G>T	GRCh38
NC_000011.9:g.95552069G>T , CM000673.1:g.95552069G>T	GRCh37
NC_000011.8:g.95191717G>T	NCBI36
NG_029829.1:g.33445G>T , LRG_526:g.33445G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.699+1G>T MANE Select	NP_055494.2:n.699+1G>T
ENST00000325542.10:c.699+1G>T MANE Select	ENSP00000317902.5:n.699+1G>T
NM_001243776.1:c.672+1G>T	NP_001230705.1:n.672+1G>T
NM_001243776.2:c.672+1G>T	NP_001230705.1:n.672+1G>T
NM_001243777.1:c.699+1G>T	NP_001230706.1:n.699+1G>T
NM_001243777.2:c.699+1G>T	NP_001230706.1:n.699+1G>T
NM_001363604.1:c.618+1G>T	NP_001350533.1:n.618+1G>T
NM_001363604.2:c.618+1G>T	NP_001350533.1:n.618+1G>T
NM_014679.4:c.699+1G>T	NP_055494.2:n.699+1G>T
ENST00000325486.9:c.699+1G>T	ENSP00000317487.5:n.699+1G>T
ENST00000325542.9:c.699+1G>T	ENSP00000317902.5:n.699+1G>T
ENST00000535224.1:c.145+1G>T
ENST00000537093.5:c.162+1G>T	ENSP00000444749.1:n.162+1G>T
ENST00000537677.5:c.618+1G>T	ENSP00000441392.1:n.618+1G>T
ENST00000538658.5:c.699+1G>T	ENSP00000445706.1:n.699+1G>T
ENST00000539855.5:c.*478+1G>T	ENSP00000437422.1:n.*478+1G>T
ENST00000540830.5:c.*463+1G>T	ENSP00000440996.1:n.*463+1G>T
ENST00000541150.5:c.672+1G>T	ENSP00000443436.1:n.672+1G>T
XM_006718945.2:c.582+1G>T	XP_006719008.1:n.582+1G>T
XM_006718945.3:c.582+1G>T	XP_006719008.1:n.582+1G>T
XM_006718946.2:c.699+1G>T	XP_006719009.1:n.699+1G>T
XM_006718946.3:c.699+1G>T	XP_006719009.1:n.699+1G>T
XM_017018592.1:c.672+1G>T	XP_016874081.1:n.672+1G>T
XM_017018593.2:c.582+1G>T	XP_016874082.1:n.582+1G>T
XM_017018594.2:c.582+1G>T	XP_016874083.1:n.582+1G>T
XM_024448779.1:c.501+1G>T	XP_024304547.1:n.501+1G>T
XR_001748050.2:n.927+1G>T