Canonical Allele Identifier: CA390608129

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739078C>A (hg19) ; chr14:g.91272734C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272734C>A , CM000676.2:g.91272734C>A	GRCh38
NC_000014.8:g.91739078C>A , CM000676.1:g.91739078C>A	GRCh37
NC_000014.7:g.90808831C>A	NCBI36
NG_033118.1:g.150111G>T
NG_033118.2:g.150111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5978G>T MANE Select	ENSP00000374507.6:p.Gly1993Val
ENST00000331194.8:c.1412G>T	ENSP00000330332.8:p.Gly471Val
ENST00000389857.10:c.5978G>T	ENSP00000374507.6:p.Gly1993Val
ENST00000556726.5:c.2206G>T
NM_001080414.3:c.5978G>T	NP_001073883.2:p.Gly1993Val
XM_011536796.1:c.5870G>T	XP_011535098.1:p.Gly1957Val
XM_011536796.2:c.5870G>T	XP_011535098.1:p.Gly1957Val
XM_017021336.1:c.3059G>T	XP_016876825.1:p.Gly1020Val
NM_001080414.4:c.5978G>T MANE Select	NP_001073883.2:p.Gly1993Val