Canonical Allele Identifier: CA390610510

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273470C>G , CM000676.2:g.91273470C>G	GRCh38
NC_000014.8:g.91739814C>G , CM000676.1:g.91739814C>G	GRCh37
NC_000014.7:g.90809567C>G	NCBI36
NG_033118.1:g.149375G>C
NG_033118.2:g.149375G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.5242G>C MANE Select	NP_001073883.2:p.Gly1748Arg
ENST00000389857.11:c.5242G>C MANE Select	ENSP00000374507.6:p.Gly1748Arg
NM_001080414.3:c.5242G>C	NP_001073883.2:p.Gly1748Arg
ENST00000331194.8:c.814G>C	ENSP00000330332.8:p.Gly272Arg
ENST00000334448.5:n.1054G>C
ENST00000389857.10:c.5242G>C	ENSP00000374507.6:p.Gly1748Arg
ENST00000556726.5:c.1470G>C
XM_011536796.1:c.5134G>C	XP_011535098.1:p.Gly1712Arg
XM_011536796.2:c.5134G>C	XP_011535098.1:p.Gly1712Arg
XM_017021336.1:c.2323G>C	XP_016876825.1:p.Gly775Arg
XR_429316.2:n.5517G>C
XR_429316.4:n.5515G>C