Canonical Allele Identifier: CA405275038

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 2040187
• ClinVar RCV Id: RCV002908098
• dbSNP Id: rs1257791760
• gnomAD v4: 19-33302017-C-T
• MyVariant Identifiers: chr19:g.33792923C>T (hg19) ; chr19:g.33302017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302017C>T , CM000681.2:g.33302017C>T	GRCh38
NC_000019.9:g.33792923C>T , CM000681.1:g.33792923C>T	GRCh37
NC_000019.8:g.38484763C>T	NCBI36
NG_012022.1:g.5508G>A , LRG_456:g.5508G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.398G>A MANE Select	ENSP00000427514.1:p.Cys133Tyr
ENST00000498907.2:c.398G>A	ENSP00000427514.1:p.Cys133Tyr
NM_001285829.1:c.41G>A	NP_001272758.1:p.Cys14Tyr
NM_001287424.1:c.503G>A	NP_001274353.1:p.Cys168Tyr
NM_001287435.1:c.356G>A	NP_001274364.1:p.Cys119Tyr
NM_004364.4:c.398G>A	NP_004355.2:p.Cys133Tyr
NM_001287424.2:c.503G>A	NP_001274353.1:p.Cys168Tyr
NM_004364.5:c.398G>A MANE Select	NP_004355.2:p.Cys133Tyr
NM_001285829.2:c.41G>A	NP_001272758.1:p.Cys14Tyr
NM_001287435.2:c.356G>A	NP_001274364.1:p.Cys119Tyr