Canonical Allele Identifier: CA390620221

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91300006G>A , CM000676.2:g.91300006G>A	GRCh38
NC_000014.8:g.91766350G>A , CM000676.1:g.91766350G>A	GRCh37
NC_000014.7:g.90836103G>A	NCBI36
NG_033118.1:g.122839C>T
NG_033118.2:g.122839C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.3700C>T MANE Select	NP_001073883.2:p.Arg1234Ter
ENST00000389857.11:c.3700C>T MANE Select	ENSP00000374507.6:p.Arg1234Ter
NM_001080414.3:c.3700C>T	NP_001073883.2:p.Arg1234Ter
ENST00000389857.10:c.3700C>T	ENSP00000374507.6:p.Arg1234Ter
XM_005267691.3:c.3700C>T	XP_005267748.1:p.Arg1234Ter
XM_005267691.5:c.3700C>T	XP_005267748.1:p.Arg1234Ter
XM_011536796.1:c.3592C>T	XP_011535098.1:p.Arg1198Ter
XM_011536796.2:c.3592C>T	XP_011535098.1:p.Arg1198Ter
XM_017021335.2:c.3700C>T	XP_016876824.1:p.Arg1234Ter
XM_017021336.1:c.781C>T	XP_016876825.1:p.Arg261Ter
XR_429316.2:n.3828C>T
XR_429316.4:n.3826C>T
XR_943459.1:n.3828C>T