Canonical Allele Identifier: CA2154879059

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313567A= , CM000676.2:g.91313567A=	GRCh38
NC_000014.8:g.91779911A= , CM000676.1:g.91779911A=	GRCh37
NC_000014.7:g.90849664A=	NCBI36
NG_033118.1:g.109278T=
NG_033118.2:g.109278T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2249T= MANE Select	ENSP00000374507.6:p.Leu750=
ENST00000389857.10:c.2249T=	ENSP00000374507.6:p.Leu750=
NM_001080414.3:c.2249T=	NP_001073883.2:p.Leu750=
XM_005267691.3:c.2249T=	XP_005267748.1:p.Leu750=
XM_011536796.1:c.2141T=	XP_011535098.1:p.Leu714=
XR_429316.2:n.2377T=
XR_943459.1:n.2377T=
XM_005267691.5:c.2249T=	XP_005267748.1:p.Leu750=
XM_011536796.2:c.2141T=	XP_011535098.1:p.Leu714=
XM_017021335.2:c.2249T=	XP_016876824.1:p.Leu750=
XM_017021337.2:c.2249T=	XP_016876826.1:p.Leu750=
XR_429316.4:n.2375T=
NM_001080414.4:c.2249T= MANE Select	NP_001073883.2:p.Leu750=