Canonical Allele Identifier: CA2154902368

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273441C= , CM000676.2:g.91273441C=	GRCh38
NC_000014.8:g.91739785C= , CM000676.1:g.91739785C=	GRCh37
NC_000014.7:g.90809538C=	NCBI36
NG_033118.1:g.149404G=
NG_033118.2:g.149404G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5271G= MANE Select	ENSP00000374507.6:p.Leu1757=
ENST00000331194.8:c.843G=	ENSP00000330332.8:p.Leu281=
ENST00000389857.10:c.5271G=	ENSP00000374507.6:p.Leu1757=
ENST00000556726.5:c.1499G=
NM_001080414.3:c.5271G=	NP_001073883.2:p.Leu1757=
XM_011536796.1:c.5163G=	XP_011535098.1:p.Leu1721=
XM_011536796.2:c.5163G=	XP_011535098.1:p.Leu1721=
XM_017021336.1:c.2352G=	XP_016876825.1:p.Leu784=
NM_001080414.4:c.5271G= MANE Select	NP_001073883.2:p.Leu1757=