Canonical Allele Identifier: CA158088

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 133885
• ClinVar RCV Id: RCV000120549 ; RCV000533682 ; RCV002472950
• dbSNP Id: rs587778192
• ExAC: 19:33792312 T / A
• gnomAD v2: 19-33792312-T-A
• gnomAD v3: 19-33301406-T-A
• gnomAD v4: 19-33301406-T-A
• COSMIC: COSM4777516
• MyVariant Identifiers: chr19:g.33792312T>A (hg19) ; chr19:g.33301406T>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301406T>A , CM000681.2:g.33301406T>A	GRCh38
NC_000019.9:g.33792312T>A , CM000681.1:g.33792312T>A	GRCh37
NC_000019.8:g.38484152T>A	NCBI36
NG_012022.1:g.6119A>T , LRG_456:g.6119A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.1009A>T MANE Select	ENSP00000427514.1:p.Thr337Ser
ENST00000498907.2:c.1009A>T	ENSP00000427514.1:p.Thr337Ser
NM_001285829.1:c.652A>T	NP_001272758.1:p.Thr218Ser
NM_001287424.1:c.1114A>T	NP_001274353.1:p.Thr372Ser
NM_001287435.1:c.967A>T	NP_001274364.1:p.Thr323Ser
NM_004364.4:c.1009A>T	NP_004355.2:p.Thr337Ser
NM_001287424.2:c.1114A>T	NP_001274353.1:p.Thr372Ser
NM_004364.5:c.1009A>T MANE Select	NP_004355.2:p.Thr337Ser
NM_001285829.2:c.652A>T	NP_001272758.1:p.Thr218Ser
NM_001287435.2:c.967A>T	NP_001274364.1:p.Thr323Ser