Canonical Allele Identifier: CA487829383

Gene: CCDC88C

Linked Data

• COSMIC: COSM4905339 ; COSM4905340 ; COSM4905341
• MyVariant Identifiers: chr14:g.91739956G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273612G>A , CM000676.2:g.91273612G>A	GRCh38
NC_000014.8:g.91739956G>A , CM000676.1:g.91739956G>A	GRCh37
NC_000014.7:g.90809709G>A	NCBI36
NG_033118.1:g.149233C>T
NG_033118.2:g.149233C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5100C>T MANE Select	ENSP00000374507.6:p.Phe1700=
ENST00000331194.8:c.672C>T	ENSP00000330332.8:p.Phe224=
ENST00000334448.5:n.912C>T
ENST00000389857.10:c.5100C>T	ENSP00000374507.6:p.Phe1700=
ENST00000556726.5:c.1328C>T
NM_001080414.3:c.5100C>T	NP_001073883.2:p.Phe1700=
XM_011536796.1:c.4992C>T	XP_011535098.1:p.Phe1664=
XR_429316.2:n.5375C>T
XM_011536796.2:c.4992C>T	XP_011535098.1:p.Phe1664=
XM_017021336.1:c.2181C>T	XP_016876825.1:p.Phe727=
XR_429316.4:n.5373C>T
NM_001080414.4:c.5100C>T MANE Select	NP_001073883.2:p.Phe1700=