Canonical Allele Identifier: CA2154909474

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279289A= , CM000676.2:g.91279289A=	GRCh38
NC_000014.8:g.91745633A= , CM000676.1:g.91745633A=	GRCh37
NC_000014.7:g.90815386A=	NCBI36
NG_033118.1:g.143556T=
NG_033118.2:g.143556T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4717T= MANE Select	ENSP00000374507.6:p.Leu1573=
ENST00000331194.8:c.289T=	ENSP00000330332.8:p.Leu97=
ENST00000334448.5:n.529T=
ENST00000389857.10:c.4717T=	ENSP00000374507.6:p.Leu1573=
ENST00000556726.5:c.945T=
ENST00000557455.1:n.689T=
NM_001080414.3:c.4717T=	NP_001073883.2:p.Leu1573=
XM_011536796.1:c.4609T=	XP_011535098.1:p.Leu1537=
XR_429316.2:n.4992T=
XM_011536796.2:c.4609T=	XP_011535098.1:p.Leu1537=
XM_017021336.1:c.1798T=	XP_016876825.1:p.Leu600=
XR_429316.4:n.4990T=
NM_001080414.4:c.4717T= MANE Select	NP_001073883.2:p.Leu1573=