Canonical Allele Identifier: CA390613295

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91747842T>C (hg19) ; chr14:g.91281498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281498T>C , CM000676.2:g.91281498T>C	GRCh38
NC_000014.8:g.91747842T>C , CM000676.1:g.91747842T>C	GRCh37
NC_000014.7:g.90817595T>C	NCBI36
NG_033118.1:g.141347A>G
NG_033118.2:g.141347A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4658A>G MANE Select	ENSP00000374507.6:p.Glu1553Gly
ENST00000331194.8:c.230A>G	ENSP00000330332.8:p.Glu77Gly
ENST00000334448.5:n.323A>G
ENST00000389857.10:c.4658A>G	ENSP00000374507.6:p.Glu1553Gly
ENST00000556726.5:c.886A>G
NM_001080414.3:c.4658A>G	NP_001073883.2:p.Glu1553Gly
XM_011536796.1:c.4550A>G	XP_011535098.1:p.Glu1517Gly
XR_429316.2:n.4786A>G
XR_943459.1:n.4786A>G
XM_011536796.2:c.4550A>G	XP_011535098.1:p.Glu1517Gly
XM_017021335.2:c.4658A>G	XP_016876824.1:p.Glu1553Gly
XM_017021336.1:c.1739A>G	XP_016876825.1:p.Glu580Gly
XR_429316.4:n.4784A>G
NM_001080414.4:c.4658A>G MANE Select	NP_001073883.2:p.Glu1553Gly