Canonical Allele Identifier: CA390610198
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273415A>G , CM000676.2:g.91273415A>G GRCh38
NC_000014.8:g.91739759A>G , CM000676.1:g.91739759A>G GRCh37
NC_000014.7:g.90809512A>G NCBI36
NG_033118.1:g.149430T>C
NG_033118.2:g.149430T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5297T>C MANE Select ENSP00000374507.6:p.Val1766Ala
ENST00000331194.8:c.869T>C ENSP00000330332.8:p.Val290Ala
ENST00000389857.10:c.5297T>C ENSP00000374507.6:p.Val1766Ala
ENST00000556726.5:c.1525T>C
NM_001080414.3:c.5297T>C NP_001073883.2:p.Val1766Ala
XM_011536796.1:c.5189T>C XP_011535098.1:p.Val1730Ala
XM_011536796.2:c.5189T>C XP_011535098.1:p.Val1730Ala
XM_017021336.1:c.2378T>C XP_016876825.1:p.Val793Ala
NM_001080414.4:c.5297T>C MANE Select NP_001073883.2:p.Val1766Ala