Canonical Allele Identifier: CA405275545

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 2680563
• ClinVar RCV Id: RCV003460386
• gnomAD v4: 19-33302249-A-T
• MyVariant Identifiers: chr19:g.33793155A>T (hg19) ; chr19:g.33302249A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302249A>T , CM000681.2:g.33302249A>T	GRCh38
NC_000019.9:g.33793155A>T , CM000681.1:g.33793155A>T	GRCh37
NC_000019.8:g.38484995A>T	NCBI36
NG_012022.1:g.5276T>A , LRG_456:g.5276T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.166T>A MANE Select	ENSP00000427514.1:p.Cys56Ser
ENST00000498907.2:c.166T>A	ENSP00000427514.1:p.Cys56Ser
NM_001285829.1:c.-192T>A	NP_001272758.1:n.-192T>A
NM_001287424.1:c.271T>A	NP_001274353.1:p.Cys91Ser
NM_001287435.1:c.124T>A	NP_001274364.1:p.Cys42Ser
NM_004364.4:c.166T>A	NP_004355.2:p.Cys56Ser
NM_001287424.2:c.271T>A	NP_001274353.1:p.Cys91Ser
NM_004364.5:c.166T>A MANE Select	NP_004355.2:p.Cys56Ser
NM_001285829.2:c.-192T>A	NP_001272758.1:n.-192T>A
NM_001287435.2:c.124T>A	NP_001274364.1:p.Cys42Ser