Canonical Allele Identifier: CA102728474
Community Standard Title: NM_001813.3(CENPE):c.5463+122G>A
Gene: CENPE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.103141628C>T , CM000666.2:g.103141628C>T GRCh38
NC_000004.11:g.104062785C>T , CM000666.1:g.104062785C>T GRCh37
NC_000004.10:g.104282234C>T NCBI36
NG_041798.1:g.61782G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001813.3:c.5463+122G>A MANE Select NP_001804.2:n.5463+122G>A
ENST00000265148.9:c.5463+122G>A MANE Select ENSP00000265148.3:n.5463+122G>A
NM_001286734.1:c.5388+122G>A NP_001273663.1:n.5388+122G>A
NM_001286734.2:c.5388+122G>A NP_001273663.1:n.5388+122G>A
NM_001813.2:c.5463+122G>A NP_001804.2:n.5463+122G>A
ENST00000265148.7:c.5463+122G>A ENSP00000265148.3:n.5463+122G>A
ENST00000380026.7:c.5388+122G>A ENSP00000369365.3:n.5388+122G>A
ENST00000380026.8:c.5388+122G>A ENSP00000369365.3:n.5388+122G>A
ENST00000611174.4:c.5463+122G>A ENSP00000483542.1:n.5463+122G>A
XM_011531544.1:c.5388+122G>A XP_011529846.1:n.5388+122G>A
XM_011531544.2:c.5388+122G>A XP_011529846.1:n.5388+122G>A
XM_011531545.1:c.5304+122G>A XP_011529847.1:n.5304+122G>A
XM_011531545.2:c.5304+122G>A XP_011529847.1:n.5304+122G>A
XM_011531546.1:c.5259+122G>A XP_011529848.1:n.5259+122G>A
XM_011531546.3:c.5259+122G>A XP_011529848.1:n.5259+122G>A
XM_011531547.1:c.5463+122G>A XP_011529849.1:n.5463+122G>A
XM_011531547.2:c.5463+122G>A XP_011529849.1:n.5463+122G>A
XM_011531548.1:c.5463+122G>A XP_011529850.1:n.5463+122G>A
XM_011531548.2:c.5463+122G>A XP_011529850.1:n.5463+122G>A
XM_011531549.1:c.5019+122G>A XP_011529851.1:n.5019+122G>A
XM_011531549.2:c.5019+122G>A XP_011529851.1:n.5019+122G>A
XM_017007659.1:c.5304+122G>A XP_016863148.1:n.5304+122G>A