Canonical Allele Identifier: CA171542
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 158117
dbSNP Id: rs3814839

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272758G>C , CM000676.2:g.91272758G>C GRCh38
NC_000014.8:g.91739102G>C , CM000676.1:g.91739102G>C GRCh37
NC_000014.7:g.90808855G>C NCBI36
NG_033118.1:g.150087C>G
NG_033118.2:g.150087C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5954C>G MANE Select ENSP00000374507.6:p.Ser1985Cys
ENST00000331194.8:c.1388C>G ENSP00000330332.8:p.Ser463Cys
ENST00000389857.10:c.5954C>G ENSP00000374507.6:p.Ser1985Cys
ENST00000556726.5:c.2182C>G
NM_001080414.3:c.5954C>G NP_001073883.2:p.Ser1985Cys
XM_011536796.1:c.5846C>G XP_011535098.1:p.Ser1949Cys
XM_011536796.2:c.5846C>G XP_011535098.1:p.Ser1949Cys
XM_017021336.1:c.3035C>G XP_016876825.1:p.Ser1012Cys
NM_001080414.4:c.5954C>G MANE Select NP_001073883.2:p.Ser1985Cys