Canonical Allele Identifier: CA2715646
Community Standard Title: NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616553G>C , CM000665.2:g.180616553G>C GRCh38
NC_000003.11:g.180334341G>C , CM000665.1:g.180334341G>C GRCh37
NC_000003.10:g.181817035G>C NCBI36
NG_029581.1:g.67943C>G

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.2549C>G (CCDC39) MANE Select NP_852091.1:p.Thr850Ser
ENST00000476379.6:c.2549C>G (CCDC39) MANE Select ENSP00000417960.2:p.Thr850Ser
NM_001288582.1:c.1775-827G>C (TTC14) NP_001275511.1:n.1775-827G>C
NM_001288582.2:c.1775-827G>C (TTC14) NP_001275511.1:n.1775-827G>C
NM_181426.1:c.2549C>G (CCDC39) NP_852091.1:p.Thr850Ser
ENST00000382584.8:c.1775-827G>C (TTC14) ENSP00000372027.4:n.1775-827G>C
ENST00000442201.6:c.2549C>G ENSP00000405708.2:p.Thr850Ser
ENST00000473854.5:c.100C>G
ENST00000476379.5:c.*373C>G ENSP00000417960.1:n.*373C>G
ENST00000489868.5:c.65C>G ENSP00000420025.1:p.Thr22Ser
ENST00000489868.6:c.65C>G (CCDC39) ENSP00000420025.1:p.Thr22Ser
ENST00000651046.1:c.2357C>G (CCDC39) ENSP00000499175.1:p.Thr786Ser
ENST00000651922.1:n.1874C>G (CCDC39)
ENST00000652010.1:n.2625C>G (CCDC39)