Canonical Allele Identifier: CA394554178

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1878429
• ClinVar RCV Id: RCV002510482 ; RCV002574738
• dbSNP Id: rs758359901
• gnomAD v2: 16-3778927-A-G
• gnomAD v3: 16-3728926-A-G
• gnomAD v4: 16-3728926-A-G
• MyVariant Identifiers: chr16:g.3778927A>G (hg19) ; chr16:g.3728926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728926A>G , CM000678.2:g.3728926A>G	GRCh38
NC_000016.9:g.3778927A>G , CM000678.1:g.3778927A>G	GRCh37
NC_000016.8:g.3718928A>G	NCBI36
NG_009873.1:g.156195T>C
NG_009873.2:g.156788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6121T>C MANE Select	ENSP00000262367.5:p.Ser2041Pro
ENST00000262367.9:c.6121T>C	ENSP00000262367.5:p.Ser2041Pro
ENST00000382070.7:c.6007T>C	ENSP00000371502.3:p.Ser2003Pro
NM_001079846.1:c.6007T>C	NP_001073315.1:p.Ser2003Pro
NM_004380.2:c.6121T>C	NP_004371.2:p.Ser2041Pro
XM_005255124.3:c.6076T>C	XP_005255181.1:p.Ser2026Pro
XM_005255125.3:c.5704T>C	XP_005255182.1:p.Ser1902Pro
XM_006720848.2:c.5860T>C	XP_006720911.1:p.Ser1954Pro
XM_011522380.1:c.6067T>C	XP_011520682.1:p.Ser2023Pro
XM_011522381.1:c.5368T>C	XP_011520683.1:p.Ser1790Pro
XM_005255124.4:c.6076T>C	XP_005255181.1:p.Ser2026Pro
XM_005255125.4:c.5704T>C	XP_005255182.1:p.Ser1902Pro
XM_006720848.3:c.5860T>C	XP_006720911.1:p.Ser1954Pro
XM_011522381.2:c.5368T>C	XP_011520683.1:p.Ser1790Pro
XM_017022944.1:c.6115T>C	XP_016878433.1:p.Ser2039Pro
NM_004380.3:c.6121T>C MANE Select	NP_004371.2:p.Ser2041Pro