Canonical Allele Identifier: CA390613313

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91747846A>G (hg19) ; chr14:g.91281502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281502A>G , CM000676.2:g.91281502A>G	GRCh38
NC_000014.8:g.91747846A>G , CM000676.1:g.91747846A>G	GRCh37
NC_000014.7:g.90817599A>G	NCBI36
NG_033118.1:g.141343T>C
NG_033118.2:g.141343T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4654T>C MANE Select	ENSP00000374507.6:p.Cys1552Arg
ENST00000331194.8:c.226T>C	ENSP00000330332.8:p.Cys76Arg
ENST00000334448.5:n.319T>C
ENST00000389857.10:c.4654T>C	ENSP00000374507.6:p.Cys1552Arg
ENST00000556726.5:c.882T>C
NM_001080414.3:c.4654T>C	NP_001073883.2:p.Cys1552Arg
XM_011536796.1:c.4546T>C	XP_011535098.1:p.Cys1516Arg
XR_429316.2:n.4782T>C
XR_943459.1:n.4782T>C
XM_011536796.2:c.4546T>C	XP_011535098.1:p.Cys1516Arg
XM_017021335.2:c.4654T>C	XP_016876824.1:p.Cys1552Arg
XM_017021336.1:c.1735T>C	XP_016876825.1:p.Cys579Arg
XR_429316.4:n.4780T>C
NM_001080414.4:c.4654T>C MANE Select	NP_001073883.2:p.Cys1552Arg