Canonical Allele Identifier: CA487540797
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91747832C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91281488C>G , CM000676.2:g.91281488C>G GRCh38
NC_000014.8:g.91747832C>G , CM000676.1:g.91747832C>G GRCh37
NC_000014.7:g.90817585C>G NCBI36
NG_033118.1:g.141357G>C
NG_033118.2:g.141357G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.4668G>C MANE Select ENSP00000374507.6:p.Leu1556=
ENST00000331194.8:c.240G>C ENSP00000330332.8:p.Leu80=
ENST00000334448.5:n.333G>C
ENST00000389857.10:c.4668G>C ENSP00000374507.6:p.Leu1556=
ENST00000556726.5:c.896G>C
NM_001080414.3:c.4668G>C NP_001073883.2:p.Leu1556=
XM_011536796.1:c.4560G>C XP_011535098.1:p.Leu1520=
XR_429316.2:n.4796G>C
XR_943459.1:n.4796G>C
XM_011536796.2:c.4560G>C XP_011535098.1:p.Leu1520=
XM_017021335.2:c.4668G>C XP_016876824.1:p.Leu1556=
XM_017021336.1:c.1749G>C XP_016876825.1:p.Leu583=
XR_429316.4:n.4794G>C
NM_001080414.4:c.4668G>C MANE Select NP_001073883.2:p.Leu1556=