Canonical Allele Identifier: CA390623238

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91772179G>A (hg19) ; chr14:g.91305835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305835G>A , CM000676.2:g.91305835G>A	GRCh38
NC_000014.8:g.91772179G>A , CM000676.1:g.91772179G>A	GRCh37
NC_000014.7:g.90841932G>A	NCBI36
NG_033118.1:g.117010C>T
NG_033118.2:g.117010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3287C>T MANE Select	ENSP00000374507.6:p.Thr1096Ile
ENST00000389857.10:c.3287C>T	ENSP00000374507.6:p.Thr1096Ile
NM_001080414.3:c.3287C>T	NP_001073883.2:p.Thr1096Ile
XM_005267691.3:c.3287C>T	XP_005267748.1:p.Thr1096Ile
XM_011536796.1:c.3179C>T	XP_011535098.1:p.Thr1060Ile
XR_429316.2:n.3415C>T
XR_943459.1:n.3415C>T
XM_005267691.5:c.3287C>T	XP_005267748.1:p.Thr1096Ile
XM_011536796.2:c.3179C>T	XP_011535098.1:p.Thr1060Ile
XM_017021335.2:c.3287C>T	XP_016876824.1:p.Thr1096Ile
XM_017021336.1:c.368C>T	XP_016876825.1:p.Thr123Ile
XR_429316.4:n.3413C>T
NM_001080414.4:c.3287C>T MANE Select	NP_001073883.2:p.Thr1096Ile