Canonical Allele Identifier: CA437070304
Community Standard Title: NM_181426.2(CCDC39):c.2526A>G (p.Leu842=)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616576T>C , CM000665.2:g.180616576T>C GRCh38
NC_000003.11:g.180334364T>C , CM000665.1:g.180334364T>C GRCh37
NC_000003.10:g.181817058T>C NCBI36
NG_029581.1:g.67920A>G

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2526A>G (CCDC39) MANE Select NP_852091.1:p.Leu842=
ENST00000476379.6:c.2526A>G (CCDC39) MANE Select ENSP00000417960.2:p.Leu842=
NM_001288582.1:c.1775-804T>C (TTC14) NP_001275511.1:n.1775-804T>C
NM_001288582.2:c.1775-804T>C (TTC14) NP_001275511.1:n.1775-804T>C
NM_181426.1:c.2526A>G (CCDC39) NP_852091.1:p.Leu842=
ENST00000382584.8:c.1775-804T>C (TTC14) ENSP00000372027.4:n.1775-804T>C
ENST00000442201.6:c.2526A>G ENSP00000405708.2:p.Leu842=
ENST00000473854.5:c.77A>G
ENST00000476379.5:c.*350A>G ENSP00000417960.1:n.*350A>G
ENST00000489868.5:c.42A>G ENSP00000420025.1:p.Leu14=
ENST00000489868.6:c.42A>G (CCDC39) ENSP00000420025.1:p.Leu14=
ENST00000651046.1:c.2334A>G (CCDC39) ENSP00000499175.1:p.Leu778=
ENST00000651922.1:n.1851A>G (CCDC39)
ENST00000652010.1:n.2602A>G (CCDC39)