Canonical Allele Identifier: CA390623052

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91772111G>A (hg19) ; chr14:g.91305767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305767G>A , CM000676.2:g.91305767G>A	GRCh38
NC_000014.8:g.91772111G>A , CM000676.1:g.91772111G>A	GRCh37
NC_000014.7:g.90841864G>A	NCBI36
NG_033118.1:g.117078C>T
NG_033118.2:g.117078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3355C>T MANE Select	ENSP00000374507.6:p.Gln1119Ter
ENST00000389857.10:c.3355C>T	ENSP00000374507.6:p.Gln1119Ter
NM_001080414.3:c.3355C>T	NP_001073883.2:p.Gln1119Ter
XM_005267691.3:c.3355C>T	XP_005267748.1:p.Gln1119Ter
XM_011536796.1:c.3247C>T	XP_011535098.1:p.Gln1083Ter
XR_429316.2:n.3483C>T
XR_943459.1:n.3483C>T
XM_005267691.5:c.3355C>T	XP_005267748.1:p.Gln1119Ter
XM_011536796.2:c.3247C>T	XP_011535098.1:p.Gln1083Ter
XM_017021335.2:c.3355C>T	XP_016876824.1:p.Gln1119Ter
XM_017021336.1:c.436C>T	XP_016876825.1:p.Gln146Ter
XR_429316.4:n.3481C>T
NM_001080414.4:c.3355C>T MANE Select	NP_001073883.2:p.Gln1119Ter