Canonical Allele Identifier: CA16616056

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 415194
• ClinVar RCV Id: RCV000461656
• dbSNP Id: rs1060504475
• gnomAD v2: 19-33792925-G-A
• gnomAD v3: 19-33302019-G-A
• gnomAD v4: 19-33302019-G-A
• MyVariant Identifiers: chr19:g.33792925G>A (hg19) ; chr19:g.33302019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302019G>A , CM000681.2:g.33302019G>A	GRCh38
NC_000019.9:g.33792925G>A , CM000681.1:g.33792925G>A	GRCh37
NC_000019.8:g.38484765G>A	NCBI36
NG_012022.1:g.5506C>T , LRG_456:g.5506C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.396C>T MANE Select	ENSP00000427514.1:p.Gly132=
ENST00000498907.2:c.396C>T	ENSP00000427514.1:p.Gly132=
NM_001285829.1:c.39C>T	NP_001272758.1:p.Gly13=
NM_001287424.1:c.501C>T	NP_001274353.1:p.Gly167=
NM_001287435.1:c.354C>T	NP_001274364.1:p.Gly118=
NM_004364.4:c.396C>T	NP_004355.2:p.Gly132=
NM_001287424.2:c.501C>T	NP_001274353.1:p.Gly167=
NM_004364.5:c.396C>T MANE Select	NP_004355.2:p.Gly132=
NM_001285829.2:c.39C>T	NP_001272758.1:p.Gly13=
NM_001287435.2:c.354C>T	NP_001274364.1:p.Gly118=