Canonical Allele Identifier: CA390610923

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739977A>T (hg19) ; chr14:g.91273633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273633A>T , CM000676.2:g.91273633A>T	GRCh38
NC_000014.8:g.91739977A>T , CM000676.1:g.91739977A>T	GRCh37
NC_000014.7:g.90809730A>T	NCBI36
NG_033118.1:g.149212T>A
NG_033118.2:g.149212T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5079T>A MANE Select	ENSP00000374507.6:p.Asp1693Glu
ENST00000331194.8:c.651T>A	ENSP00000330332.8:p.Asp217Glu
ENST00000334448.5:n.891T>A
ENST00000389857.10:c.5079T>A	ENSP00000374507.6:p.Asp1693Glu
ENST00000556726.5:c.1307T>A
NM_001080414.3:c.5079T>A	NP_001073883.2:p.Asp1693Glu
XM_011536796.1:c.4971T>A	XP_011535098.1:p.Asp1657Glu
XR_429316.2:n.5354T>A
XM_011536796.2:c.4971T>A	XP_011535098.1:p.Asp1657Glu
XM_017021336.1:c.2160T>A	XP_016876825.1:p.Asp720Glu
XR_429316.4:n.5352T>A
NM_001080414.4:c.5079T>A MANE Select	NP_001073883.2:p.Asp1693Glu