Canonical Allele Identifier: CA7309829

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91314096G>A , CM000676.2:g.91314096G>A	GRCh38
NC_000014.8:g.91780440G>A , CM000676.1:g.91780440G>A	GRCh37
NC_000014.7:g.90850193G>A	NCBI36
NG_033118.1:g.108749C>T
NG_033118.2:g.108749C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.1720C>T MANE Select	NP_001073883.2:p.Arg574Trp
ENST00000389857.11:c.1720C>T MANE Select	ENSP00000374507.6:p.Arg574Trp
NM_001080414.3:c.1720C>T	NP_001073883.2:p.Arg574Trp
ENST00000389857.10:c.1720C>T	ENSP00000374507.6:p.Arg574Trp
ENST00000557507.1:n.276C>T
XM_005267691.3:c.1720C>T	XP_005267748.1:p.Arg574Trp
XM_005267691.5:c.1720C>T	XP_005267748.1:p.Arg574Trp
XM_011536796.1:c.1612C>T	XP_011535098.1:p.Arg538Trp
XM_011536796.2:c.1612C>T	XP_011535098.1:p.Arg538Trp
XM_017021335.2:c.1720C>T	XP_016876824.1:p.Arg574Trp
XM_017021337.2:c.1720C>T	XP_016876826.1:p.Arg574Trp
XR_429316.2:n.1848C>T
XR_429316.4:n.1846C>T
XR_943459.1:n.1848C>T