Canonical Allele Identifier: CA390608478

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739148C>T (hg19) ; chr14:g.91272804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272804C>T , CM000676.2:g.91272804C>T	GRCh38
NC_000014.8:g.91739148C>T , CM000676.1:g.91739148C>T	GRCh37
NC_000014.7:g.90808901C>T	NCBI36
NG_033118.1:g.150041G>A
NG_033118.2:g.150041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5908G>A MANE Select	ENSP00000374507.6:p.Gly1970Arg
ENST00000331194.8:c.1342G>A	ENSP00000330332.8:p.Gly448Arg
ENST00000389857.10:c.5908G>A	ENSP00000374507.6:p.Gly1970Arg
ENST00000556726.5:c.2136G>A
NM_001080414.3:c.5908G>A	NP_001073883.2:p.Gly1970Arg
XM_011536796.1:c.5800G>A	XP_011535098.1:p.Gly1934Arg
XM_011536796.2:c.5800G>A	XP_011535098.1:p.Gly1934Arg
XM_017021336.1:c.2989G>A	XP_016876825.1:p.Gly997Arg
NM_001080414.4:c.5908G>A MANE Select	NP_001073883.2:p.Gly1970Arg