Canonical Allele Identifier: CA390612931

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91745594G>C (hg19) ; chr14:g.91279250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279250G>C , CM000676.2:g.91279250G>C	GRCh38
NC_000014.8:g.91745594G>C , CM000676.1:g.91745594G>C	GRCh37
NC_000014.7:g.90815347G>C	NCBI36
NG_033118.1:g.143595C>G
NG_033118.2:g.143595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4756C>G MANE Select	ENSP00000374507.6:p.Leu1586Val
ENST00000331194.8:c.328C>G	ENSP00000330332.8:p.Leu110Val
ENST00000334448.5:n.568C>G
ENST00000389857.10:c.4756C>G	ENSP00000374507.6:p.Leu1586Val
ENST00000556726.5:c.984C>G
ENST00000557455.1:n.728C>G
NM_001080414.3:c.4756C>G	NP_001073883.2:p.Leu1586Val
XM_011536796.1:c.4648C>G	XP_011535098.1:p.Leu1550Val
XR_429316.2:n.5031C>G
XM_011536796.2:c.4648C>G	XP_011535098.1:p.Leu1550Val
XM_017021336.1:c.1837C>G	XP_016876825.1:p.Leu613Val
XR_429316.4:n.5029C>G
NM_001080414.4:c.4756C>G MANE Select	NP_001073883.2:p.Leu1586Val