Canonical Allele Identifier: CA487829194
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739992A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273648A>T , CM000676.2:g.91273648A>T GRCh38
NC_000014.8:g.91739992A>T , CM000676.1:g.91739992A>T GRCh37
NC_000014.7:g.90809745A>T NCBI36
NG_033118.1:g.149197T>A
NG_033118.2:g.149197T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5064T>A MANE Select ENSP00000374507.6:p.Thr1688=
ENST00000331194.8:c.636T>A ENSP00000330332.8:p.Thr212=
ENST00000334448.5:n.876T>A
ENST00000389857.10:c.5064T>A ENSP00000374507.6:p.Thr1688=
ENST00000556726.5:c.1292T>A
NM_001080414.3:c.5064T>A NP_001073883.2:p.Thr1688=
XM_011536796.1:c.4956T>A XP_011535098.1:p.Thr1652=
XR_429316.2:n.5339T>A
XM_011536796.2:c.4956T>A XP_011535098.1:p.Thr1652=
XM_017021336.1:c.2145T>A XP_016876825.1:p.Thr715=
XR_429316.4:n.5337T>A
NM_001080414.4:c.5064T>A MANE Select NP_001073883.2:p.Thr1688=