Canonical Allele Identifier: CA7308827

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278187C>T , CM000676.2:g.91278187C>T	GRCh38
NC_000014.8:g.91744531C>T , CM000676.1:g.91744531C>T	GRCh37
NC_000014.7:g.90814284C>T	NCBI36
NG_033118.1:g.144658G>A
NG_033118.2:g.144658G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4793G>A MANE Select	NP_001073883.2:p.Arg1598Gln
ENST00000389857.11:c.4793G>A MANE Select	ENSP00000374507.6:p.Arg1598Gln
NM_001080414.3:c.4793G>A	NP_001073883.2:p.Arg1598Gln
ENST00000331194.8:c.365G>A	ENSP00000330332.8:p.Arg122Gln
ENST00000334448.5:n.605G>A
ENST00000389857.10:c.4793G>A	ENSP00000374507.6:p.Arg1598Gln
ENST00000556726.5:c.1021G>A
ENST00000557455.1:n.765G>A
XM_011536796.1:c.4685G>A	XP_011535098.1:p.Arg1562Gln
XM_011536796.2:c.4685G>A	XP_011535098.1:p.Arg1562Gln
XM_017021336.1:c.1874G>A	XP_016876825.1:p.Arg625Gln
XR_429316.2:n.5068G>A
XR_429316.4:n.5066G>A