Canonical Allele Identifier: CA2937232
Community Standard Title: NM_001812.4(CENPC):c.505G>A (p.Val169Ile)
Gene: CENPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67519329C>T , CM000666.2:g.67519329C>T GRCh38
NC_000004.11:g.68385047C>T , CM000666.1:g.68385047C>T GRCh37
NC_000004.10:g.68067642C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001812.4:c.505G>A MANE Select NP_001803.2:p.Val169Ile
ENST00000273853.11:c.505G>A MANE Select ENSP00000273853.6:p.Val169Ile
NM_001362481.1:c.505G>A NP_001349410.1:p.Val169Ile
NM_001362481.2:c.505G>A NP_001349410.1:p.Val169Ile
NM_001812.2:c.505G>A NP_001803.2:p.Val169Ile
NM_001812.3:c.505G>A NP_001803.2:p.Val169Ile
NR_155754.1:n.756G>A
NR_155754.2:n.653G>A
ENST00000273853.10:c.505G>A ENSP00000273853.6:p.Val169Ile
ENST00000506882.5:c.505G>A ENSP00000426078.1:p.Val169Ile
ENST00000510189.5:n.653G>A
ENST00000513216.5:c.226G>A ENSP00000421234.1:p.Val76Ile
XM_006714064.1:c.505G>A XP_006714127.1:p.Val169Ile
XM_011531541.1:c.505G>A XP_011529843.1:p.Val169Ile
XM_011531542.1:c.505G>A XP_011529844.1:p.Val169Ile
XM_011531542.3:c.505G>A XP_011529844.1:p.Val169Ile
XR_245245.2:n.640G>A
XR_938676.1:n.640G>A