Canonical Allele Identifier: CA7310277

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91343640T>C , CM000676.2:g.91343640T>C	GRCh38
NC_000014.8:g.91809984T>C , CM000676.1:g.91809984T>C	GRCh37
NC_000014.7:g.90879737T>C	NCBI36
NG_033118.1:g.79205A>G
NG_033118.2:g.79205A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.358A>G MANE Select	NP_001073883.2:p.Ile120Val
ENST00000389857.11:c.358A>G MANE Select	ENSP00000374507.6:p.Ile120Val
NM_001080414.3:c.358A>G	NP_001073883.2:p.Ile120Val
ENST00000389857.10:c.358A>G	ENSP00000374507.6:p.Ile120Val
ENST00000553437.1:n.188A>G
ENST00000554872.5:n.298A>G
XM_005267691.3:c.358A>G	XP_005267748.1:p.Ile120Val
XM_005267691.5:c.358A>G	XP_005267748.1:p.Ile120Val
XM_011536796.1:c.250A>G	XP_011535098.1:p.Ile84Val
XM_011536796.2:c.250A>G	XP_011535098.1:p.Ile84Val
XM_017021335.2:c.358A>G	XP_016876824.1:p.Ile120Val
XM_017021337.2:c.358A>G	XP_016876826.1:p.Ile120Val
XR_429316.2:n.486A>G
XR_429316.4:n.484A>G
XR_943459.1:n.486A>G