Canonical Allele Identifier: CA2802581714

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279424C>T , CM000676.2:g.91279424C>T	GRCh38
NC_000014.8:g.91745768C>T , CM000676.1:g.91745768C>T	GRCh37
NC_000014.7:g.90815521C>T	NCBI36
NG_033118.1:g.143421G>A
NG_033118.2:g.143421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-118G>A MANE Select	ENSP00000374507.6:n.4700-118G>A
ENST00000331194.8:c.272-118G>A	ENSP00000330332.8:n.272-118G>A
ENST00000334448.5:n.512-118G>A
ENST00000389857.10:c.4700-118G>A	ENSP00000374507.6:n.4700-118G>A
ENST00000556726.5:c.928-118G>A
ENST00000557455.1:n.554G>A
NM_001080414.3:c.4700-118G>A	NP_001073883.2:n.4700-118G>A
XM_011536796.1:c.4592-118G>A	XP_011535098.1:n.4592-118G>A
XR_429316.2:n.4975-118G>A
XR_943459.1:n.5465G>A
XM_011536796.2:c.4592-118G>A	XP_011535098.1:n.4592-118G>A
XM_017021335.2:c.*456G>A	XP_016876824.1:n.*456G>A
XM_017021336.1:c.1781-118G>A	XP_016876825.1:n.1781-118G>A
XR_429316.4:n.4973-118G>A
NM_001080414.4:c.4700-118G>A MANE Select	NP_001073883.2:n.4700-118G>A