Canonical Allele Identifier: CA390610882

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739958A>G (hg19) ; chr14:g.91273614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273614A>G , CM000676.2:g.91273614A>G	GRCh38
NC_000014.8:g.91739958A>G , CM000676.1:g.91739958A>G	GRCh37
NC_000014.7:g.90809711A>G	NCBI36
NG_033118.1:g.149231T>C
NG_033118.2:g.149231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5098T>C MANE Select	ENSP00000374507.6:p.Phe1700Leu
ENST00000331194.8:c.670T>C	ENSP00000330332.8:p.Phe224Leu
ENST00000334448.5:n.910T>C
ENST00000389857.10:c.5098T>C	ENSP00000374507.6:p.Phe1700Leu
ENST00000556726.5:c.1326T>C
NM_001080414.3:c.5098T>C	NP_001073883.2:p.Phe1700Leu
XM_011536796.1:c.4990T>C	XP_011535098.1:p.Phe1664Leu
XR_429316.2:n.5373T>C
XM_011536796.2:c.4990T>C	XP_011535098.1:p.Phe1664Leu
XM_017021336.1:c.2179T>C	XP_016876825.1:p.Phe727Leu
XR_429316.4:n.5371T>C
NM_001080414.4:c.5098T>C MANE Select	NP_001073883.2:p.Phe1700Leu