Canonical Allele Identifier: CA390613305

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91747845C>A (hg19) ; chr14:g.91281501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281501C>A , CM000676.2:g.91281501C>A	GRCh38
NC_000014.8:g.91747845C>A , CM000676.1:g.91747845C>A	GRCh37
NC_000014.7:g.90817598C>A	NCBI36
NG_033118.1:g.141344G>T
NG_033118.2:g.141344G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4655G>T MANE Select	ENSP00000374507.6:p.Cys1552Phe
ENST00000331194.8:c.227G>T	ENSP00000330332.8:p.Cys76Phe
ENST00000334448.5:n.320G>T
ENST00000389857.10:c.4655G>T	ENSP00000374507.6:p.Cys1552Phe
ENST00000556726.5:c.883G>T
NM_001080414.3:c.4655G>T	NP_001073883.2:p.Cys1552Phe
XM_011536796.1:c.4547G>T	XP_011535098.1:p.Cys1516Phe
XR_429316.2:n.4783G>T
XR_943459.1:n.4783G>T
XM_011536796.2:c.4547G>T	XP_011535098.1:p.Cys1516Phe
XM_017021335.2:c.4655G>T	XP_016876824.1:p.Cys1552Phe
XM_017021336.1:c.1736G>T	XP_016876825.1:p.Cys579Phe
XR_429316.4:n.4781G>T
NM_001080414.4:c.4655G>T MANE Select	NP_001073883.2:p.Cys1552Phe