Canonical Allele Identifier: CA2715708

Gene: CCDC39 TTC14

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616907T>C , CM000665.2:g.180616907T>C	GRCh38
NC_000003.11:g.180334695T>C , CM000665.1:g.180334695T>C	GRCh37
NC_000003.10:g.181817389T>C	NCBI36
NG_029581.1:g.67589A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_181426.2:c.2325A>G (CCDC39) MANE Select	NP_852091.1:p.Leu775=
ENST00000476379.6:c.2325A>G (CCDC39) MANE Select	ENSP00000417960.2:p.Leu775=
NM_001288582.1:c.1775-473T>C (TTC14)	NP_001275511.1:n.1775-473T>C
NM_001288582.2:c.1775-473T>C (TTC14)	NP_001275511.1:n.1775-473T>C
NM_181426.1:c.2325A>G (CCDC39)	NP_852091.1:p.Leu775=
ENST00000382584.8:c.1775-473T>C (TTC14)	ENSP00000372027.4:n.1775-473T>C
ENST00000442201.6:c.2325A>G	ENSP00000405708.2:p.Leu775=
ENST00000476379.5:c.*149A>G	ENSP00000417960.1:n.*149A>G
ENST00000651046.1:c.2133A>G (CCDC39)	ENSP00000499175.1:p.Leu711=
ENST00000651922.1:n.1650A>G (CCDC39)
ENST00000652010.1:n.2401A>G (CCDC39)