Canonical Allele Identifier: CA487829259
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739782A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273438A>T , CM000676.2:g.91273438A>T GRCh38
NC_000014.8:g.91739782A>T , CM000676.1:g.91739782A>T GRCh37
NC_000014.7:g.90809535A>T NCBI36
NG_033118.1:g.149407T>A
NG_033118.2:g.149407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5274T>A MANE Select ENSP00000374507.6:p.Thr1758=
ENST00000331194.8:c.846T>A ENSP00000330332.8:p.Thr282=
ENST00000389857.10:c.5274T>A ENSP00000374507.6:p.Thr1758=
ENST00000556726.5:c.1502T>A
NM_001080414.3:c.5274T>A NP_001073883.2:p.Thr1758=
XM_011536796.1:c.5166T>A XP_011535098.1:p.Thr1722=
XM_011536796.2:c.5166T>A XP_011535098.1:p.Thr1722=
XM_017021336.1:c.2355T>A XP_016876825.1:p.Thr785=
NM_001080414.4:c.5274T>A MANE Select NP_001073883.2:p.Thr1758=