Canonical Allele Identifier: CA405273691
Community Standard Title: NM_004364.5(CEBPA):c.1028G>T (p.Arg343Leu)
Gene: CEBPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33301387C>A , CM000681.2:g.33301387C>A GRCh38
NC_000019.9:g.33792293C>A , CM000681.1:g.33792293C>A GRCh37
NC_000019.8:g.38484133C>A NCBI36
NG_012022.1:g.6138G>T , LRG_456:g.6138G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004364.5:c.1028G>T MANE Select NP_004355.2:p.Arg343Leu
ENST00000498907.3:c.1028G>T MANE Select ENSP00000427514.1:p.Arg343Leu
NM_001285829.1:c.671G>T NP_001272758.1:p.Arg224Leu
NM_001285829.2:c.671G>T NP_001272758.1:p.Arg224Leu
NM_001287424.1:c.1133G>T NP_001274353.1:p.Arg378Leu
NM_001287424.2:c.1133G>T NP_001274353.1:p.Arg378Leu
NM_001287435.1:c.986G>T NP_001274364.1:p.Arg329Leu
NM_001287435.2:c.986G>T NP_001274364.1:p.Arg329Leu
NM_004364.4:c.1028G>T NP_004355.2:p.Arg343Leu
ENST00000498907.2:c.1028G>T ENSP00000427514.1:p.Arg343Leu