Canonical Allele Identifier: CA405273732
Community Standard Title: NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly)
Gene: CEBPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33301408T>C , CM000681.2:g.33301408T>C GRCh38
NC_000019.9:g.33792314T>C , CM000681.1:g.33792314T>C GRCh37
NC_000019.8:g.38484154T>C NCBI36
NG_012022.1:g.6117A>G , LRG_456:g.6117A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004364.5:c.1007A>G MANE Select NP_004355.2:p.Asp336Gly
ENST00000498907.3:c.1007A>G MANE Select ENSP00000427514.1:p.Asp336Gly
NM_001285829.1:c.650A>G NP_001272758.1:p.Asp217Gly
NM_001285829.2:c.650A>G NP_001272758.1:p.Asp217Gly
NM_001287424.1:c.1112A>G NP_001274353.1:p.Asp371Gly
NM_001287424.2:c.1112A>G NP_001274353.1:p.Asp371Gly
NM_001287435.1:c.965A>G NP_001274364.1:p.Asp322Gly
NM_001287435.2:c.965A>G NP_001274364.1:p.Asp322Gly
NM_004364.4:c.1007A>G NP_004355.2:p.Asp336Gly
ENST00000498907.2:c.1007A>G ENSP00000427514.1:p.Asp336Gly