Canonical Allele Identifier: CA2154902784

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273625A= , CM000676.2:g.91273625A=	GRCh38
NC_000014.8:g.91739969A= , CM000676.1:g.91739969A=	GRCh37
NC_000014.7:g.90809722A=	NCBI36
NG_033118.1:g.149220T=
NG_033118.2:g.149220T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5087T= MANE Select	ENSP00000374507.6:p.Leu1696=
ENST00000331194.8:c.659T=	ENSP00000330332.8:p.Leu220=
ENST00000334448.5:n.899T=
ENST00000389857.10:c.5087T=	ENSP00000374507.6:p.Leu1696=
ENST00000556726.5:c.1315T=
NM_001080414.3:c.5087T=	NP_001073883.2:p.Leu1696=
XM_011536796.1:c.4979T=	XP_011535098.1:p.Leu1660=
XR_429316.2:n.5362T=
XM_011536796.2:c.4979T=	XP_011535098.1:p.Leu1660=
XM_017021336.1:c.2168T=	XP_016876825.1:p.Leu723=
XR_429316.4:n.5360T=
NM_001080414.4:c.5087T= MANE Select	NP_001073883.2:p.Leu1696=