Canonical Allele Identifier: CA390617167

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91359680A>T , CM000676.2:g.91359680A>T	GRCh38
NC_000014.8:g.91826024A>T , CM000676.1:g.91826024A>T	GRCh37
NC_000014.7:g.90895777A>T	NCBI36
NG_033118.1:g.63165T>A
NG_033118.2:g.63165T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.302T>A MANE Select	NP_001073883.2:p.Leu101Ter
ENST00000389857.11:c.302T>A MANE Select	ENSP00000374507.6:p.Leu101Ter
NM_001080414.3:c.302T>A	NP_001073883.2:p.Leu101Ter
ENST00000389857.10:c.302T>A	ENSP00000374507.6:p.Leu101Ter
ENST00000553437.1:n.132T>A
ENST00000554872.5:n.242T>A
XM_005267691.3:c.302T>A	XP_005267748.1:p.Leu101Ter
XM_005267691.5:c.302T>A	XP_005267748.1:p.Leu101Ter
XM_011536796.1:c.194T>A	XP_011535098.1:p.Leu65Ter
XM_011536796.2:c.194T>A	XP_011535098.1:p.Leu65Ter
XM_017021335.2:c.302T>A	XP_016876824.1:p.Leu101Ter
XM_017021337.2:c.302T>A	XP_016876826.1:p.Leu101Ter
XR_429316.2:n.430T>A
XR_429316.4:n.428T>A
XR_943459.1:n.430T>A