Canonical Allele Identifier: CA355299423
Community Standard Title: NM_181426.2(CCDC39):c.983T>C (p.Leu328Pro)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180652214A>G , CM000665.2:g.180652214A>G GRCh38
NC_000003.11:g.180370002A>G , CM000665.1:g.180370002A>G GRCh37
NC_000003.10:g.181852696A>G NCBI36
NG_029581.1:g.32282T>C

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.983T>C MANE Select NP_852091.1:p.Leu328Pro
ENST00000476379.6:c.983T>C MANE Select ENSP00000417960.2:p.Leu328Pro
NM_181426.1:c.983T>C NP_852091.1:p.Leu328Pro
ENST00000442201.6:c.983T>C ENSP00000405708.2:p.Leu328Pro
ENST00000476379.5:c.983T>C ENSP00000417960.1:p.Leu328Pro
ENST00000650641.1:n.870T>C
ENST00000650889.1:n.1374T>C
ENST00000651046.1:c.791T>C ENSP00000499175.1:p.Leu264Pro
ENST00000651818.1:n.933T>C
ENST00000651922.1:n.308T>C
ENST00000652024.1:n.882T>C
ENST00000652408.1:n.1120T>C