Canonical Allele Identifier: CA9363656
Community Standard Title: NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
Gene: CEBPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33301371G>C , CM000681.2:g.33301371G>C GRCh38
NC_000019.9:g.33792277G>C , CM000681.1:g.33792277G>C GRCh37
NC_000019.8:g.38484117G>C NCBI36
NG_012022.1:g.6154C>G , LRG_456:g.6154C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004364.5:c.1044C>G MANE Select NP_004355.2:p.Ser348Arg
ENST00000498907.3:c.1044C>G MANE Select ENSP00000427514.1:p.Ser348Arg
NM_001285829.1:c.687C>G NP_001272758.1:p.Ser229Arg
NM_001285829.2:c.687C>G NP_001272758.1:p.Ser229Arg
NM_001287424.1:c.1149C>G NP_001274353.1:p.Ser383Arg
NM_001287424.2:c.1149C>G NP_001274353.1:p.Ser383Arg
NM_001287435.1:c.1002C>G NP_001274364.1:p.Ser334Arg
NM_001287435.2:c.1002C>G NP_001274364.1:p.Ser334Arg
NM_004364.4:c.1044C>G NP_004355.2:p.Ser348Arg
ENST00000498907.2:c.1044C>G ENSP00000427514.1:p.Ser348Arg