Canonical Allele Identifier: CA390617947

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91763650T>C (hg19) ; chr14:g.91297306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297306T>C , CM000676.2:g.91297306T>C	GRCh38
NC_000014.8:g.91763650T>C , CM000676.1:g.91763650T>C	GRCh37
NC_000014.7:g.90833403T>C	NCBI36
NG_033118.1:g.125539A>G
NG_033118.2:g.125539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3965A>G MANE Select	ENSP00000374507.6:p.Glu1322Gly
ENST00000389857.10:c.3965A>G	ENSP00000374507.6:p.Glu1322Gly
NM_001080414.3:c.3965A>G	NP_001073883.2:p.Glu1322Gly
XM_005267691.3:c.3965A>G	XP_005267748.1:p.Glu1322Gly
XM_011536796.1:c.3857A>G	XP_011535098.1:p.Glu1286Gly
XR_429316.2:n.4093A>G
XR_943459.1:n.4093A>G
XM_005267691.5:c.3965A>G	XP_005267748.1:p.Glu1322Gly
XM_011536796.2:c.3857A>G	XP_011535098.1:p.Glu1286Gly
XM_017021335.2:c.3965A>G	XP_016876824.1:p.Glu1322Gly
XM_017021336.1:c.1046A>G	XP_016876825.1:p.Glu349Gly
XR_429316.4:n.4091A>G
NM_001080414.4:c.3965A>G MANE Select	NP_001073883.2:p.Glu1322Gly