Canonical Allele Identifier: CA390618292

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91763728C>A (hg19) ; chr14:g.91297384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297384C>A , CM000676.2:g.91297384C>A	GRCh38
NC_000014.8:g.91763728C>A , CM000676.1:g.91763728C>A	GRCh37
NC_000014.7:g.90833481C>A	NCBI36
NG_033118.1:g.125461G>T
NG_033118.2:g.125461G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.3887G>T MANE Select	ENSP00000374507.6:p.Trp1296Leu
ENST00000389857.10:c.3887G>T	ENSP00000374507.6:p.Trp1296Leu
NM_001080414.3:c.3887G>T	NP_001073883.2:p.Trp1296Leu
XM_005267691.3:c.3887G>T	XP_005267748.1:p.Trp1296Leu
XM_011536796.1:c.3779G>T	XP_011535098.1:p.Trp1260Leu
XR_429316.2:n.4015G>T
XR_943459.1:n.4015G>T
XM_005267691.5:c.3887G>T	XP_005267748.1:p.Trp1296Leu
XM_011536796.2:c.3779G>T	XP_011535098.1:p.Trp1260Leu
XM_017021335.2:c.3887G>T	XP_016876824.1:p.Trp1296Leu
XM_017021336.1:c.968G>T	XP_016876825.1:p.Trp323Leu
XR_429316.4:n.4013G>T
NM_001080414.4:c.3887G>T MANE Select	NP_001073883.2:p.Trp1296Leu