Canonical Allele Identifier: CA390611807

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91804416A>C (hg19) ; chr14:g.91338072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338072A>C , CM000676.2:g.91338072A>C	GRCh38
NC_000014.8:g.91804416A>C , CM000676.1:g.91804416A>C	GRCh37
NC_000014.7:g.90874169A>C	NCBI36
NG_033118.1:g.84773T>G
NG_033118.2:g.84773T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.983T>G MANE Select	ENSP00000374507.6:p.Leu328Arg
ENST00000389857.10:c.983T>G	ENSP00000374507.6:p.Leu328Arg
ENST00000554051.1:n.460T>G
NM_001080414.3:c.983T>G	NP_001073883.2:p.Leu328Arg
XM_005267691.3:c.983T>G	XP_005267748.1:p.Leu328Arg
XM_011536796.1:c.875T>G	XP_011535098.1:p.Leu292Arg
XR_429316.2:n.1111T>G
XR_943459.1:n.1111T>G
XM_005267691.5:c.983T>G	XP_005267748.1:p.Leu328Arg
XM_011536796.2:c.875T>G	XP_011535098.1:p.Leu292Arg
XM_017021335.2:c.983T>G	XP_016876824.1:p.Leu328Arg
XM_017021337.2:c.983T>G	XP_016876826.1:p.Leu328Arg
XR_429316.4:n.1109T>G
NM_001080414.4:c.983T>G MANE Select	NP_001073883.2:p.Leu328Arg