Canonical Allele Identifier: CA7309835

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91314113C>T , CM000676.2:g.91314113C>T	GRCh38
NC_000014.8:g.91780457C>T , CM000676.1:g.91780457C>T	GRCh37
NC_000014.7:g.90850210C>T	NCBI36
NG_033118.1:g.108732G>A
NG_033118.2:g.108732G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.1703G>A MANE Select	NP_001073883.2:p.Arg568Gln
ENST00000389857.11:c.1703G>A MANE Select	ENSP00000374507.6:p.Arg568Gln
NM_001080414.3:c.1703G>A	NP_001073883.2:p.Arg568Gln
ENST00000389857.10:c.1703G>A	ENSP00000374507.6:p.Arg568Gln
ENST00000557507.1:n.259G>A
XM_005267691.3:c.1703G>A	XP_005267748.1:p.Arg568Gln
XM_005267691.5:c.1703G>A	XP_005267748.1:p.Arg568Gln
XM_011536796.1:c.1595G>A	XP_011535098.1:p.Arg532Gln
XM_011536796.2:c.1595G>A	XP_011535098.1:p.Arg532Gln
XM_017021335.2:c.1703G>A	XP_016876824.1:p.Arg568Gln
XM_017021337.2:c.1703G>A	XP_016876826.1:p.Arg568Gln
XR_429316.2:n.1831G>A
XR_429316.4:n.1829G>A
XR_943459.1:n.1831G>A