Canonical Allele Identifier: CA390608272
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272770C>A , CM000676.2:g.91272770C>A GRCh38
NC_000014.8:g.91739114C>A , CM000676.1:g.91739114C>A GRCh37
NC_000014.7:g.90808867C>A NCBI36
NG_033118.1:g.150075G>T
NG_033118.2:g.150075G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5942G>T MANE Select ENSP00000374507.6:p.Ser1981Ile
ENST00000331194.8:c.1376G>T ENSP00000330332.8:p.Ser459Ile
ENST00000389857.10:c.5942G>T ENSP00000374507.6:p.Ser1981Ile
ENST00000556726.5:c.2170G>T
NM_001080414.3:c.5942G>T NP_001073883.2:p.Ser1981Ile
XM_011536796.1:c.5834G>T XP_011535098.1:p.Ser1945Ile
XM_011536796.2:c.5834G>T XP_011535098.1:p.Ser1945Ile
XM_017021336.1:c.3023G>T XP_016876825.1:p.Ser1008Ile
NM_001080414.4:c.5942G>T MANE Select NP_001073883.2:p.Ser1981Ile