Canonical Allele Identifier: CA2154900559
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272826G= , CM000676.2:g.91272826G= GRCh38
NC_000014.8:g.91739170G= , CM000676.1:g.91739170G= GRCh37
NC_000014.7:g.90808923G= NCBI36
NG_033118.1:g.150019C=
NG_033118.2:g.150019C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5886C= MANE Select ENSP00000374507.6:p.Leu1962=
ENST00000331194.8:c.1320C= ENSP00000330332.8:p.Leu440=
ENST00000389857.10:c.5886C= ENSP00000374507.6:p.Leu1962=
ENST00000556726.5:c.2114C=
NM_001080414.3:c.5886C= NP_001073883.2:p.Leu1962=
XM_011536796.1:c.5778C= XP_011535098.1:p.Leu1926=
XM_011536796.2:c.5778C= XP_011535098.1:p.Leu1926=
XM_017021336.1:c.2967C= XP_016876825.1:p.Leu989=
NM_001080414.4:c.5886C= MANE Select NP_001073883.2:p.Leu1962=