Canonical Allele Identifier: CA405275803

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 841129
• ClinVar RCV Id: RCV001043287 ; RCV002255609
• dbSNP Id: rs1967203329
• gnomAD v4: 19-33302372-T-G
• MyVariant Identifiers: chr19:g.33793278T>G (hg19) ; chr19:g.33302372T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302372T>G , CM000681.2:g.33302372T>G	GRCh38
NC_000019.9:g.33793278T>G , CM000681.1:g.33793278T>G	GRCh37
NC_000019.8:g.38485118T>G	NCBI36
NG_012022.1:g.5153A>C , LRG_456:g.5153A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.43A>C MANE Select	ENSP00000427514.1:p.Met15Leu
ENST00000498907.2:c.43A>C	ENSP00000427514.1:p.Met15Leu
NM_001285829.1:c.-315A>C	NP_001272758.1:n.-315A>C
NM_001287424.1:c.148A>C	NP_001274353.1:p.Met50Leu
NM_001287435.1:c.1A>C	NP_001274364.1:p.Met1Leu
NM_004364.4:c.43A>C	NP_004355.2:p.Met15Leu
NM_001287424.2:c.148A>C	NP_001274353.1:p.Met50Leu
NM_004364.5:c.43A>C MANE Select	NP_004355.2:p.Met15Leu
NM_001285829.2:c.-315A>C	NP_001272758.1:n.-315A>C
NM_001287435.2:c.1A>C	NP_001274364.1:p.Met1Leu