Canonical Allele Identifier: CA2154901297

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305790A= , CM000676.2:g.91305790A=	GRCh38
NC_000014.8:g.91772134A= , CM000676.1:g.91772134A=	GRCh37
NC_000014.7:g.90841887A=	NCBI36
NG_033118.1:g.117055T=
NG_033118.2:g.117055T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3332T= MANE Select	ENSP00000374507.6:p.Leu1111=
ENST00000389857.10:c.3332T=	ENSP00000374507.6:p.Leu1111=
NM_001080414.3:c.3332T=	NP_001073883.2:p.Leu1111=
XM_005267691.3:c.3332T=	XP_005267748.1:p.Leu1111=
XM_011536796.1:c.3224T=	XP_011535098.1:p.Leu1075=
XR_429316.2:n.3460T=
XR_943459.1:n.3460T=
XM_005267691.5:c.3332T=	XP_005267748.1:p.Leu1111=
XM_011536796.2:c.3224T=	XP_011535098.1:p.Leu1075=
XM_017021335.2:c.3332T=	XP_016876824.1:p.Leu1111=
XM_017021336.1:c.413T=	XP_016876825.1:p.Leu138=
XR_429316.4:n.3458T=
NM_001080414.4:c.3332T= MANE Select	NP_001073883.2:p.Leu1111=