Canonical Allele Identifier: CA10967725

Gene: CCDC30 PPCS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42473350C>G , CM000663.2:g.42473350C>G	GRCh38
NC_000001.10:g.42939021C>G , CM000663.1:g.42939021C>G	GRCh37
NC_000001.9:g.42711608C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001395517.1:c.-91-7111C>G (CCDC30) MANE Select	NP_001382446.1:n.-91-7111C>G
ENST00000657597.2:c.-91-7111C>G (CCDC30) MANE Select	ENSP00000499662.2:n.-91-7111C>G
NM_001287511.1:c.*106C>G (PPCS)	NP_001274440.1:n.*106C>G
NM_001287511.2:c.*106C>G (PPCS)	NP_001274440.1:n.*106C>G
NM_001355224.1:c.-1564+47C>G (CCDC30)	NP_001342153.1:n.-1564+47C>G
NM_001355224.2:c.-1564+47C>G (CCDC30)	NP_001342153.1:n.-1564+47C>G
NM_001355226.1:c.-879-7111C>G (CCDC30)	NP_001342155.1:n.-879-7111C>G
NM_001355226.2:c.-879-7111C>G (CCDC30)	NP_001342155.1:n.-879-7111C>G
NM_001355227.1:c.-1175-7111C>G (CCDC30)	NP_001342156.1:n.-1175-7111C>G
NM_001355227.2:c.-1175-7111C>G (CCDC30)	NP_001342156.1:n.-1175-7111C>G
NM_001395379.1:c.-91-7111C>G (CCDC30)	NP_001382308.1:n.-91-7111C>G
NM_001395382.1:c.-91-7111C>G (CCDC30)	NP_001382311.1:n.-91-7111C>G
NM_001395383.1:c.-91-7111C>G (CCDC30)	NP_001382312.1:n.-91-7111C>G
NM_001395384.1:c.-120-3758C>G (CCDC30)	NP_001382313.1:n.-120-3758C>G
NM_001395385.1:c.-91-7111C>G (CCDC30)	NP_001382314.1:n.-91-7111C>G
ENST00000462063.1:n.327C>G (CCDC30)
ENST00000468651.1:n.461C>G (CCDC30)
ENST00000468651.2:n.618C>G (CCDC30)
ENST00000471420.1:n.606C>G (PPCS)
ENST00000475614.6:n.562-7111C>G (CCDC30)
ENST00000475614.7:n.611-9313C>G (CCDC30)
ENST00000477155.5:c.-1564+47C>G (CCDC30)	ENSP00000421479.2:n.-1564+47C>G
ENST00000477155.6:c.18+47C>G (CCDC30)	ENSP00000421479.3:n.18+47C>G
ENST00000492422.1:n.525C>G (CCDC30)
ENST00000654604.1:c.-91-7111C>G (CCDC30)	ENSP00000499713.1:n.-91-7111C>G
ENST00000654683.1:c.-91-7111C>G (CCDC30)	ENSP00000499720.1:n.-91-7111C>G
ENST00000655164.1:c.-91-7111C>G (CCDC30)	ENSP00000499756.1:n.-91-7111C>G
ENST00000655447.1:c.-91-7111C>G (CCDC30)	ENSP00000499240.1:n.-91-7111C>G
ENST00000655845.1:c.-91-7111C>G (CCDC30)	ENSP00000499484.1:n.-91-7111C>G
ENST00000657597.1:c.18+47C>G (CCDC30)	ENSP00000499662.1:n.18+47C>G
ENST00000658812.1:c.-91-7111C>G (CCDC30)	ENSP00000499738.1:n.-91-7111C>G
ENST00000660083.1:c.-120-3758C>G (CCDC30)	ENSP00000499483.1:n.-120-3758C>G
ENST00000660938.1:c.-91-7111C>G (CCDC30)	ENSP00000499261.1:n.-91-7111C>G
ENST00000661864.1:c.-91-7111C>G (CCDC30)	ENSP00000499424.1:n.-91-7111C>G
ENST00000663155.1:n.654-7111C>G (CCDC30)
ENST00000663866.1:c.-91-7111C>G (CCDC30)	ENSP00000499305.1:n.-91-7111C>G
ENST00000664192.1:c.-91-7111C>G (CCDC30)	ENSP00000499799.1:n.-91-7111C>G
ENST00000664418.1:c.18+47C>G (CCDC30)	ENSP00000499489.1:n.18+47C>G
ENST00000664805.1:c.-91-7111C>G (CCDC30)	ENSP00000499336.1:n.-91-7111C>G
ENST00000665176.1:c.-91-7111C>G (CCDC30)	ENSP00000499388.1:n.-91-7111C>G
ENST00000665792.1:n.556-7111C>G (CCDC30)
ENST00000665812.1:c.-91-7111C>G (CCDC30)	ENSP00000499766.1:n.-91-7111C>G
ENST00000667205.1:c.-91-7111C>G (CCDC30)	ENSP00000499722.1:n.-91-7111C>G
ENST00000667947.1:c.-91-7111C>G (CCDC30)	ENSP00000499262.1:n.-91-7111C>G
ENST00000668036.1:c.-57-9313C>G (CCDC30)	ENSP00000499359.1:n.-57-9313C>G
ENST00000668663.1:c.-91-7111C>G (CCDC30)	ENSP00000499699.1:n.-91-7111C>G
ENST00000669138.1:c.-91-7111C>G (CCDC30)	ENSP00000499594.1:n.-91-7111C>G
ENST00000670982.1:c.-91-7111C>G (CCDC30)	ENSP00000499317.1:n.-91-7111C>G
ENST00000671281.1:c.-91-7111C>G (CCDC30)	ENSP00000499366.1:n.-91-7111C>G
XM_011542066.1:c.-91-7111C>G (CCDC30)	XP_011540368.1:n.-91-7111C>G
XM_024449502.1:c.-91-7111C>G (CCDC30)	XP_024305270.1:n.-91-7111C>G
XM_024449503.1:c.-91-7111C>G (CCDC30)	XP_024305271.1:n.-91-7111C>G
XM_024449504.1:c.-91-7111C>G (CCDC30)	XP_024305272.1:n.-91-7111C>G
XM_024449505.1:c.-1175-7111C>G (CCDC30)	XP_024305273.1:n.-1175-7111C>G
XR_002957535.1:n.582-7111C>G (CCDC30)