Canonical Allele Identifier: CA390608555

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 1901901
• ClinVar RCV Id: RCV002572651
• MyVariant Identifiers: chr14:g.91739162C>T (hg19) ; chr14:g.91272818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272818C>T , CM000676.2:g.91272818C>T	GRCh38
NC_000014.8:g.91739162C>T , CM000676.1:g.91739162C>T	GRCh37
NC_000014.7:g.90808915C>T	NCBI36
NG_033118.1:g.150027G>A
NG_033118.2:g.150027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5894G>A MANE Select	ENSP00000374507.6:p.Gly1965Glu
ENST00000331194.8:c.1328G>A	ENSP00000330332.8:p.Gly443Glu
ENST00000389857.10:c.5894G>A	ENSP00000374507.6:p.Gly1965Glu
ENST00000556726.5:c.2122G>A
NM_001080414.3:c.5894G>A	NP_001073883.2:p.Gly1965Glu
XM_011536796.1:c.5786G>A	XP_011535098.1:p.Gly1929Glu
XM_011536796.2:c.5786G>A	XP_011535098.1:p.Gly1929Glu
XM_017021336.1:c.2975G>A	XP_016876825.1:p.Gly992Glu
NM_001080414.4:c.5894G>A MANE Select	NP_001073883.2:p.Gly1965Glu