Canonical Allele Identifier: CA9363717

Gene: CEBPA

Linked Data

• dbSNP Id: rs777090929
• ExAC: 19:33793161 C / A
• gnomAD v2: 19-33793161-C-A
• gnomAD v4: 19-33302255-C-A
• MyVariant Identifiers: chr19:g.33793161C>A (hg19) ; chr19:g.33302255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33302255C>A , CM000681.2:g.33302255C>A	GRCh38
NC_000019.9:g.33793161C>A , CM000681.1:g.33793161C>A	GRCh37
NC_000019.8:g.38485001C>A	NCBI36
NG_012022.1:g.5270G>T , LRG_456:g.5270G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000498907.3:c.160G>T MANE Select	ENSP00000427514.1:p.Gly54Cys
ENST00000498907.2:c.160G>T	ENSP00000427514.1:p.Gly54Cys
NM_001285829.1:c.-198G>T	NP_001272758.1:n.-198G>T
NM_001287424.1:c.265G>T	NP_001274353.1:p.Gly89Cys
NM_001287435.1:c.118G>T	NP_001274364.1:p.Gly40Cys
NM_004364.4:c.160G>T	NP_004355.2:p.Gly54Cys
NM_001287424.2:c.265G>T	NP_001274353.1:p.Gly89Cys
NM_004364.5:c.160G>T MANE Select	NP_004355.2:p.Gly54Cys
NM_001285829.2:c.-198G>T	NP_001272758.1:n.-198G>T
NM_001287435.2:c.118G>T	NP_001274364.1:p.Gly40Cys