Canonical Allele Identifier: CA2715618
Community Standard Title: NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616354C>A , CM000665.2:g.180616354C>A GRCh38
NC_000003.11:g.180334142C>A , CM000665.1:g.180334142C>A GRCh37
NC_000003.10:g.181816836C>A NCBI36
NG_029581.1:g.68142G>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2596G>T (CCDC39) MANE Select NP_852091.1:p.Glu866Ter
ENST00000476379.6:c.2596G>T (CCDC39) MANE Select ENSP00000417960.2:p.Glu866Ter
NM_001288582.1:c.1775-1026C>A (TTC14) NP_001275511.1:n.1775-1026C>A
NM_001288582.2:c.1775-1026C>A (TTC14) NP_001275511.1:n.1775-1026C>A
NM_181426.1:c.2596G>T (CCDC39) NP_852091.1:p.Glu866Ter
ENST00000382584.8:c.1775-1026C>A (TTC14) ENSP00000372027.4:n.1775-1026C>A
ENST00000442201.6:c.2596G>T ENSP00000405708.2:p.Glu866Ter
ENST00000473854.5:c.147G>T
ENST00000476379.5:c.*420G>T ENSP00000417960.1:n.*420G>T
ENST00000489868.5:c.112G>T ENSP00000420025.1:p.Glu38Ter
ENST00000489868.6:c.112G>T (CCDC39) ENSP00000420025.1:p.Glu38Ter
ENST00000651046.1:c.2404G>T (CCDC39) ENSP00000499175.1:p.Glu802Ter
ENST00000651922.1:n.1921G>T (CCDC39)
ENST00000652010.1:n.2672G>T (CCDC39)