Canonical Allele Identifier: CA390612580

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91339301C>G , CM000676.2:g.91339301C>G	GRCh38
NC_000014.8:g.91805645C>G , CM000676.1:g.91805645C>G	GRCh37
NC_000014.7:g.90875398C>G	NCBI36
NG_033118.1:g.83544G>C
NG_033118.2:g.83544G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.786G>C MANE Select	NP_001073883.2:p.Arg262Ser
ENST00000389857.11:c.786G>C MANE Select	ENSP00000374507.6:p.Arg262Ser
NM_001080414.3:c.786G>C	NP_001073883.2:p.Arg262Ser
ENST00000389857.10:c.786G>C	ENSP00000374507.6:p.Arg262Ser
ENST00000554872.5:n.726G>C
XM_005267691.3:c.786G>C	XP_005267748.1:p.Arg262Ser
XM_005267691.5:c.786G>C	XP_005267748.1:p.Arg262Ser
XM_011536796.1:c.678G>C	XP_011535098.1:p.Arg226Ser
XM_011536796.2:c.678G>C	XP_011535098.1:p.Arg226Ser
XM_017021335.2:c.786G>C	XP_016876824.1:p.Arg262Ser
XM_017021337.2:c.786G>C	XP_016876826.1:p.Arg262Ser
XR_429316.2:n.914G>C
XR_429316.4:n.912G>C
XR_943459.1:n.914G>C