Canonical Allele Identifier: CA390611795

Gene: CCDC88C

Linked Data

• dbSNP Id: rs2139856987
• MyVariant Identifiers: chr14:g.91804410A>G (hg19) ; chr14:g.91338066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338066A>G , CM000676.2:g.91338066A>G	GRCh38
NC_000014.8:g.91804410A>G , CM000676.1:g.91804410A>G	GRCh37
NC_000014.7:g.90874163A>G	NCBI36
NG_033118.1:g.84779T>C
NG_033118.2:g.84779T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.989T>C MANE Select	ENSP00000374507.6:p.Leu330Pro
ENST00000389857.10:c.989T>C	ENSP00000374507.6:p.Leu330Pro
ENST00000554051.1:n.466T>C
NM_001080414.3:c.989T>C	NP_001073883.2:p.Leu330Pro
XM_005267691.3:c.989T>C	XP_005267748.1:p.Leu330Pro
XM_011536796.1:c.881T>C	XP_011535098.1:p.Leu294Pro
XR_429316.2:n.1117T>C
XR_943459.1:n.1117T>C
XM_005267691.5:c.989T>C	XP_005267748.1:p.Leu330Pro
XM_011536796.2:c.881T>C	XP_011535098.1:p.Leu294Pro
XM_017021335.2:c.989T>C	XP_016876824.1:p.Leu330Pro
XM_017021337.2:c.989T>C	XP_016876826.1:p.Leu330Pro
XR_429316.4:n.1115T>C
NM_001080414.4:c.989T>C MANE Select	NP_001073883.2:p.Leu330Pro