Canonical Allele Identifier: CA390610910

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739972A>C (hg19) ; chr14:g.91273628A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273628A>C , CM000676.2:g.91273628A>C	GRCh38
NC_000014.8:g.91739972A>C , CM000676.1:g.91739972A>C	GRCh37
NC_000014.7:g.90809725A>C	NCBI36
NG_033118.1:g.149217T>G
NG_033118.2:g.149217T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5084T>G MANE Select	ENSP00000374507.6:p.Leu1695Arg
ENST00000331194.8:c.656T>G	ENSP00000330332.8:p.Leu219Arg
ENST00000334448.5:n.896T>G
ENST00000389857.10:c.5084T>G	ENSP00000374507.6:p.Leu1695Arg
ENST00000556726.5:c.1312T>G
NM_001080414.3:c.5084T>G	NP_001073883.2:p.Leu1695Arg
XM_011536796.1:c.4976T>G	XP_011535098.1:p.Leu1659Arg
XR_429316.2:n.5359T>G
XM_011536796.2:c.4976T>G	XP_011535098.1:p.Leu1659Arg
XM_017021336.1:c.2165T>G	XP_016876825.1:p.Leu722Arg
XR_429316.4:n.5357T>G
NM_001080414.4:c.5084T>G MANE Select	NP_001073883.2:p.Leu1695Arg