Canonical Allele Identifier: CA390624896

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91307046C>A , CM000676.2:g.91307046C>A	GRCh38
NC_000014.8:g.91773390C>A , CM000676.1:g.91773390C>A	GRCh37
NC_000014.7:g.90843143C>A	NCBI36
NG_033118.1:g.115799G>T
NG_033118.2:g.115799G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.3187G>T MANE Select	NP_001073883.2:p.Glu1063Ter
ENST00000389857.11:c.3187G>T MANE Select	ENSP00000374507.6:p.Glu1063Ter
NM_001080414.3:c.3187G>T	NP_001073883.2:p.Glu1063Ter
ENST00000389857.10:c.3187G>T	ENSP00000374507.6:p.Glu1063Ter
XM_005267691.3:c.3187G>T	XP_005267748.1:p.Glu1063Ter
XM_005267691.5:c.3187G>T	XP_005267748.1:p.Glu1063Ter
XM_011536796.1:c.3079G>T	XP_011535098.1:p.Glu1027Ter
XM_011536796.2:c.3079G>T	XP_011535098.1:p.Glu1027Ter
XM_017021335.2:c.3187G>T	XP_016876824.1:p.Glu1063Ter
XM_017021336.1:c.268G>T	XP_016876825.1:p.Glu90Ter
XR_429316.2:n.3315G>T
XR_429316.4:n.3313G>T
XR_943459.1:n.3315G>T