Canonical Allele Identifier: CA130648

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338121G>A , CM000676.2:g.91338121G>A	GRCh38
NC_000014.8:g.91804465G>A , CM000676.1:g.91804465G>A	GRCh37
NC_000014.7:g.90874218G>A	NCBI36
NG_033118.1:g.84724C>T
NG_033118.2:g.84724C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.934C>T MANE Select	NP_001073883.2:p.Arg312Ter
ENST00000389857.11:c.934C>T MANE Select	ENSP00000374507.6:p.Arg312Ter
NM_001080414.3:c.934C>T	NP_001073883.2:p.Arg312Ter
ENST00000389857.10:c.934C>T	ENSP00000374507.6:p.Arg312Ter
ENST00000554051.1:n.411C>T
XM_005267691.3:c.934C>T	XP_005267748.1:p.Arg312Ter
XM_005267691.5:c.934C>T	XP_005267748.1:p.Arg312Ter
XM_011536796.1:c.826C>T	XP_011535098.1:p.Arg276Ter
XM_011536796.2:c.826C>T	XP_011535098.1:p.Arg276Ter
XM_017021335.2:c.934C>T	XP_016876824.1:p.Arg312Ter
XM_017021337.2:c.934C>T	XP_016876826.1:p.Arg312Ter
XR_429316.2:n.1062C>T
XR_429316.4:n.1060C>T
XR_943459.1:n.1062C>T