Canonical Allele Identifier: CA171536

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278005G>T , CM000676.2:g.91278005G>T	GRCh38
NC_000014.8:g.91744349G>T , CM000676.1:g.91744349G>T	GRCh37
NC_000014.7:g.90814102G>T	NCBI36
NG_033118.1:g.144840C>A
NG_033118.2:g.144840C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4975C>A MANE Select	NP_001073883.2:p.Arg1659=
ENST00000389857.11:c.4975C>A MANE Select	ENSP00000374507.6:p.Arg1659=
NM_001080414.3:c.4975C>A	NP_001073883.2:p.Arg1659=
ENST00000331194.8:c.547C>A	ENSP00000330332.8:p.Arg183=
ENST00000334448.5:n.787C>A
ENST00000389857.10:c.4975C>A	ENSP00000374507.6:p.Arg1659=
ENST00000556726.5:c.1203C>A
XM_011536796.1:c.4867C>A	XP_011535098.1:p.Arg1623=
XM_011536796.2:c.4867C>A	XP_011535098.1:p.Arg1623=
XM_017021336.1:c.2056C>A	XP_016876825.1:p.Arg686=
XR_429316.2:n.5250C>A
XR_429316.4:n.5248C>A