Canonical Allele Identifier: CA2715912
Community Standard Title: NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180644173G>C , CM000665.2:g.180644173G>C GRCh38
NC_000003.11:g.180361961G>C , CM000665.1:g.180361961G>C GRCh37
NC_000003.10:g.181844655G>C NCBI36
NG_029581.1:g.40323C>G

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1612C>G MANE Select NP_852091.1:p.Leu538Val
ENST00000476379.6:c.1612C>G MANE Select ENSP00000417960.2:p.Leu538Val
NM_181426.1:c.1612C>G NP_852091.1:p.Leu538Val
ENST00000442201.6:c.1612C>G ENSP00000405708.2:p.Leu538Val
ENST00000476379.5:c.1612C>G ENSP00000417960.1:p.Leu538Val
ENST00000650641.1:n.1499C>G
ENST00000650889.1:n.4824C>G
ENST00000651046.1:c.1420C>G ENSP00000499175.1:p.Leu474Val
ENST00000651818.1:n.1562C>G
ENST00000651922.1:n.937C>G
ENST00000652024.1:n.4332C>G
ENST00000652408.1:n.1749C>G