Canonical Allele Identifier: CA390616206

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91294172C>T , CM000676.2:g.91294172C>T	GRCh38
NC_000014.8:g.91760516C>T , CM000676.1:g.91760516C>T	GRCh37
NC_000014.7:g.90830269C>T	NCBI36
NG_033118.1:g.128673G>A
NG_033118.2:g.128673G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4112+1G>A MANE Select	NP_001073883.2:n.4112+1G>A
ENST00000389857.11:c.4112+1G>A MANE Select	ENSP00000374507.6:n.4112+1G>A
NM_001080414.3:c.4112+1G>A	NP_001073883.2:n.4112+1G>A
ENST00000389857.10:c.4112+1G>A	ENSP00000374507.6:n.4112+1G>A
XM_005267691.3:c.4112+1G>A	XP_005267748.1:n.4112+1G>A
XM_005267691.5:c.4112+1G>A	XP_005267748.1:n.4112+1G>A
XM_011536796.1:c.4004+1G>A	XP_011535098.1:n.4004+1G>A
XM_011536796.2:c.4004+1G>A	XP_011535098.1:n.4004+1G>A
XM_017021335.2:c.4112+1G>A	XP_016876824.1:n.4112+1G>A
XM_017021336.1:c.1193+1G>A	XP_016876825.1:n.1193+1G>A
XR_429316.2:n.4240+1G>A
XR_429316.4:n.4238+1G>A
XR_943459.1:n.4240+1G>A