Canonical Allele Identifier: CA487541202
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91804418C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338074C>T , CM000676.2:g.91338074C>T GRCh38
NC_000014.8:g.91804418C>T , CM000676.1:g.91804418C>T GRCh37
NC_000014.7:g.90874171C>T NCBI36
NG_033118.1:g.84771G>A
NG_033118.2:g.84771G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.981G>A MANE Select ENSP00000374507.6:p.Arg327=
ENST00000389857.10:c.981G>A ENSP00000374507.6:p.Arg327=
ENST00000554051.1:n.458G>A
NM_001080414.3:c.981G>A NP_001073883.2:p.Arg327=
XM_005267691.3:c.981G>A XP_005267748.1:p.Arg327=
XM_011536796.1:c.873G>A XP_011535098.1:p.Arg291=
XR_429316.2:n.1109G>A
XR_943459.1:n.1109G>A
XM_005267691.5:c.981G>A XP_005267748.1:p.Arg327=
XM_011536796.2:c.873G>A XP_011535098.1:p.Arg291=
XM_017021335.2:c.981G>A XP_016876824.1:p.Arg327=
XM_017021337.2:c.981G>A XP_016876826.1:p.Arg327=
XR_429316.4:n.1107G>A
NM_001080414.4:c.981G>A MANE Select NP_001073883.2:p.Arg327=