Canonical Allele Identifier: CA7309888
Community Standard Title: NM_001080414.4(CCDC88C):c.1527+8G>A
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91321112C>T , CM000676.2:g.91321112C>T GRCh38
NC_000014.8:g.91787456C>T , CM000676.1:g.91787456C>T GRCh37
NC_000014.7:g.90857209C>T NCBI36
NG_033118.1:g.101733G>A
NG_033118.2:g.101733G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080414.4:c.1527+8G>A MANE Select NP_001073883.2:n.1527+8G>A
ENST00000389857.11:c.1527+8G>A MANE Select ENSP00000374507.6:n.1527+8G>A
NM_001080414.3:c.1527+8G>A NP_001073883.2:n.1527+8G>A
ENST00000389857.10:c.1527+8G>A ENSP00000374507.6:n.1527+8G>A
XM_005267691.3:c.1527+8G>A XP_005267748.1:n.1527+8G>A
XM_005267691.5:c.1527+8G>A XP_005267748.1:n.1527+8G>A
XM_011536796.1:c.1419+8G>A XP_011535098.1:n.1419+8G>A
XM_011536796.2:c.1419+8G>A XP_011535098.1:n.1419+8G>A
XM_017021335.2:c.1527+8G>A XP_016876824.1:n.1527+8G>A
XM_017021337.2:c.1527+8G>A XP_016876826.1:n.1527+8G>A
XR_429316.2:n.1655+8G>A
XR_429316.4:n.1653+8G>A
XR_943459.1:n.1655+8G>A