Canonical Allele Identifier: CA390613280

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91281490-G-C
• MyVariant Identifiers: chr14:g.91747834G>C (hg19) ; chr14:g.91281490G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281490G>C , CM000676.2:g.91281490G>C	GRCh38
NC_000014.8:g.91747834G>C , CM000676.1:g.91747834G>C	GRCh37
NC_000014.7:g.90817587G>C	NCBI36
NG_033118.1:g.141355C>G
NG_033118.2:g.141355C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4666C>G MANE Select	ENSP00000374507.6:p.Leu1556Val
ENST00000331194.8:c.238C>G	ENSP00000330332.8:p.Leu80Val
ENST00000334448.5:n.331C>G
ENST00000389857.10:c.4666C>G	ENSP00000374507.6:p.Leu1556Val
ENST00000556726.5:c.894C>G
NM_001080414.3:c.4666C>G	NP_001073883.2:p.Leu1556Val
XM_011536796.1:c.4558C>G	XP_011535098.1:p.Leu1520Val
XR_429316.2:n.4794C>G
XR_943459.1:n.4794C>G
XM_011536796.2:c.4558C>G	XP_011535098.1:p.Leu1520Val
XM_017021335.2:c.4666C>G	XP_016876824.1:p.Leu1556Val
XM_017021336.1:c.1747C>G	XP_016876825.1:p.Leu583Val
XR_429316.4:n.4792C>G
NM_001080414.4:c.4666C>G MANE Select	NP_001073883.2:p.Leu1556Val