Canonical Allele Identifier: CA265569156

Gene: CCDC88C

Linked Data

• dbSNP Id: rs867189172
• gnomAD v3: 14-91313150-A-G
• gnomAD v4: 14-91313150-A-G
• MyVariant Identifiers: chr14:g.91779494A>G (hg19) ; chr14:g.91313150A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313150A>G , CM000676.2:g.91313150A>G	GRCh38
NC_000014.8:g.91779494A>G , CM000676.1:g.91779494A>G	GRCh37
NC_000014.7:g.90849247A>G	NCBI36
NG_033118.1:g.109695T>C
NG_033118.2:g.109695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2666T>C MANE Select	ENSP00000374507.6:p.Leu889Pro
ENST00000389857.10:c.2666T>C	ENSP00000374507.6:p.Leu889Pro
NM_001080414.3:c.2666T>C	NP_001073883.2:p.Leu889Pro
XM_005267691.3:c.2666T>C	XP_005267748.1:p.Leu889Pro
XM_011536796.1:c.2558T>C	XP_011535098.1:p.Leu853Pro
XR_429316.2:n.2794T>C
XR_943459.1:n.2794T>C
XM_005267691.5:c.2666T>C	XP_005267748.1:p.Leu889Pro
XM_011536796.2:c.2558T>C	XP_011535098.1:p.Leu853Pro
XM_017021335.2:c.2666T>C	XP_016876824.1:p.Leu889Pro
XM_017021336.1:c.-126T>C	XP_016876825.1:n.-126T>C
XM_017021337.2:c.2666T>C	XP_016876826.1:p.Leu889Pro
XR_429316.4:n.2792T>C
NM_001080414.4:c.2666T>C MANE Select	NP_001073883.2:p.Leu889Pro