Canonical Allele Identifier: CA390610200

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739759A>T (hg19) ; chr14:g.91273415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273415A>T , CM000676.2:g.91273415A>T	GRCh38
NC_000014.8:g.91739759A>T , CM000676.1:g.91739759A>T	GRCh37
NC_000014.7:g.90809512A>T	NCBI36
NG_033118.1:g.149430T>A
NG_033118.2:g.149430T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5297T>A MANE Select	ENSP00000374507.6:p.Val1766Glu
ENST00000331194.8:c.869T>A	ENSP00000330332.8:p.Val290Glu
ENST00000389857.10:c.5297T>A	ENSP00000374507.6:p.Val1766Glu
ENST00000556726.5:c.1525T>A
NM_001080414.3:c.5297T>A	NP_001073883.2:p.Val1766Glu
XM_011536796.1:c.5189T>A	XP_011535098.1:p.Val1730Glu
XM_011536796.2:c.5189T>A	XP_011535098.1:p.Val1730Glu
XM_017021336.1:c.2378T>A	XP_016876825.1:p.Val793Glu
NM_001080414.4:c.5297T>A MANE Select	NP_001073883.2:p.Val1766Glu