Canonical Allele Identifier: CA2154879096

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313598G= , CM000676.2:g.91313598G=	GRCh38
NC_000014.8:g.91779942G= , CM000676.1:g.91779942G=	GRCh37
NC_000014.7:g.90849695G=	NCBI36
NG_033118.1:g.109247C=
NG_033118.2:g.109247C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2218C= MANE Select	ENSP00000374507.6:p.Leu740=
ENST00000389857.10:c.2218C=	ENSP00000374507.6:p.Leu740=
NM_001080414.3:c.2218C=	NP_001073883.2:p.Leu740=
XM_005267691.3:c.2218C=	XP_005267748.1:p.Leu740=
XM_011536796.1:c.2110C=	XP_011535098.1:p.Leu704=
XR_429316.2:n.2346C=
XR_943459.1:n.2346C=
XM_005267691.5:c.2218C=	XP_005267748.1:p.Leu740=
XM_011536796.2:c.2110C=	XP_011535098.1:p.Leu704=
XM_017021335.2:c.2218C=	XP_016876824.1:p.Leu740=
XM_017021337.2:c.2218C=	XP_016876826.1:p.Leu740=
XR_429316.4:n.2344C=
NM_001080414.4:c.2218C= MANE Select	NP_001073883.2:p.Leu740=