Canonical Allele Identifier: CA390610953

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739993G>A (hg19) ; chr14:g.91273649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273649G>A , CM000676.2:g.91273649G>A	GRCh38
NC_000014.8:g.91739993G>A , CM000676.1:g.91739993G>A	GRCh37
NC_000014.7:g.90809746G>A	NCBI36
NG_033118.1:g.149196C>T
NG_033118.2:g.149196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5063C>T MANE Select	ENSP00000374507.6:p.Thr1688Ile
ENST00000331194.8:c.635C>T	ENSP00000330332.8:p.Thr212Ile
ENST00000334448.5:n.875C>T
ENST00000389857.10:c.5063C>T	ENSP00000374507.6:p.Thr1688Ile
ENST00000556726.5:c.1291C>T
NM_001080414.3:c.5063C>T	NP_001073883.2:p.Thr1688Ile
XM_011536796.1:c.4955C>T	XP_011535098.1:p.Thr1652Ile
XR_429316.2:n.5338C>T
XM_011536796.2:c.4955C>T	XP_011535098.1:p.Thr1652Ile
XM_017021336.1:c.2144C>T	XP_016876825.1:p.Thr715Ile
XR_429316.4:n.5336C>T
NM_001080414.4:c.5063C>T MANE Select	NP_001073883.2:p.Thr1688Ile