Canonical Allele Identifier: CA130647

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91277921C>T , CM000676.2:g.91277921C>T	GRCh38
NC_000014.8:g.91744265C>T , CM000676.1:g.91744265C>T	GRCh37
NC_000014.7:g.90814018C>T	NCBI36
NG_033118.1:g.144924G>A
NG_033118.2:g.144924G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.5058+1G>A MANE Select	NP_001073883.2:n.5058+1G>A
ENST00000389857.11:c.5058+1G>A MANE Select	ENSP00000374507.6:n.5058+1G>A
NM_001080414.3:c.5058+1G>A	NP_001073883.2:n.5058+1G>A
ENST00000331194.8:c.630+1G>A	ENSP00000330332.8:n.630+1G>A
ENST00000334448.5:n.870+1G>A
ENST00000389857.10:c.5058+1G>A	ENSP00000374507.6:n.5058+1G>A
ENST00000556726.5:c.1286+1G>A
XM_011536796.1:c.4950+1G>A	XP_011535098.1:n.4950+1G>A
XM_011536796.2:c.4950+1G>A	XP_011535098.1:n.4950+1G>A
XM_017021336.1:c.2139+1G>A	XP_016876825.1:n.2139+1G>A
XR_429316.2:n.5333+1G>A
XR_429316.4:n.5331+1G>A