Canonical Allele Identifier: CA487828623
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739215T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272871T>G , CM000676.2:g.91272871T>G GRCh38
NC_000014.8:g.91739215T>G , CM000676.1:g.91739215T>G GRCh37
NC_000014.7:g.90808968T>G NCBI36
NG_033118.1:g.149974A>C
NG_033118.2:g.149974A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5841A>C MANE Select ENSP00000374507.6:p.Ser1947=
ENST00000331194.8:c.1275A>C ENSP00000330332.8:p.Ser425=
ENST00000389857.10:c.5841A>C ENSP00000374507.6:p.Ser1947=
ENST00000556726.5:c.2069A>C
NM_001080414.3:c.5841A>C NP_001073883.2:p.Ser1947=
XM_011536796.1:c.5733A>C XP_011535098.1:p.Ser1911=
XM_011536796.2:c.5733A>C XP_011535098.1:p.Ser1911=
XM_017021336.1:c.2922A>C XP_016876825.1:p.Ser974=
NM_001080414.4:c.5841A>C MANE Select NP_001073883.2:p.Ser1947=