Canonical Allele Identifier: CA487828511
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739044G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272700G>A , CM000676.2:g.91272700G>A GRCh38
NC_000014.8:g.91739044G>A , CM000676.1:g.91739044G>A GRCh37
NC_000014.7:g.90808797G>A NCBI36
NG_033118.1:g.150145C>T
NG_033118.2:g.150145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6012C>T MANE Select ENSP00000374507.6:p.Val2004=
ENST00000331194.8:c.1446C>T ENSP00000330332.8:p.Val482=
ENST00000389857.10:c.6012C>T ENSP00000374507.6:p.Val2004=
ENST00000556726.5:c.2240C>T
NM_001080414.3:c.6012C>T NP_001073883.2:p.Val2004=
XM_011536796.1:c.5904C>T XP_011535098.1:p.Val1968=
XM_011536796.2:c.5904C>T XP_011535098.1:p.Val1968=
XM_017021336.1:c.3093C>T XP_016876825.1:p.Val1031=
NM_001080414.4:c.6012C>T MANE Select NP_001073883.2:p.Val2004=