Canonical Allele Identifier: CA2154879027

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313541G= , CM000676.2:g.91313541G=	GRCh38
NC_000014.8:g.91779885G= , CM000676.1:g.91779885G=	GRCh37
NC_000014.7:g.90849638G=	NCBI36
NG_033118.1:g.109304C=
NG_033118.2:g.109304C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2275C= MANE Select	ENSP00000374507.6:p.Leu759=
ENST00000389857.10:c.2275C=	ENSP00000374507.6:p.Leu759=
NM_001080414.3:c.2275C=	NP_001073883.2:p.Leu759=
XM_005267691.3:c.2275C=	XP_005267748.1:p.Leu759=
XM_011536796.1:c.2167C=	XP_011535098.1:p.Leu723=
XR_429316.2:n.2403C=
XR_943459.1:n.2403C=
XM_005267691.5:c.2275C=	XP_005267748.1:p.Leu759=
XM_011536796.2:c.2167C=	XP_011535098.1:p.Leu723=
XM_017021335.2:c.2275C=	XP_016876824.1:p.Leu759=
XM_017021337.2:c.2275C=	XP_016876826.1:p.Leu759=
XR_429316.4:n.2401C=
NM_001080414.4:c.2275C= MANE Select	NP_001073883.2:p.Leu759=