Canonical Allele Identifier: CA394553784

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305121
• gnomAD v4: 16-3728790-A-G
• MyVariant Identifiers: chr16:g.3778791A>G (hg19) ; chr16:g.3728790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728790A>G , CM000678.2:g.3728790A>G	GRCh38
NC_000016.9:g.3778791A>G , CM000678.1:g.3778791A>G	GRCh37
NC_000016.8:g.3718792A>G	NCBI36
NG_009873.1:g.156331T>C
NG_009873.2:g.156924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6257T>C MANE Select	ENSP00000262367.5:p.Val2086Ala
ENST00000262367.9:c.6257T>C	ENSP00000262367.5:p.Val2086Ala
ENST00000382070.7:c.6143T>C	ENSP00000371502.3:p.Val2048Ala
NM_001079846.1:c.6143T>C	NP_001073315.1:p.Val2048Ala
NM_004380.2:c.6257T>C	NP_004371.2:p.Val2086Ala
XM_005255124.3:c.6212T>C	XP_005255181.1:p.Val2071Ala
XM_005255125.3:c.5840T>C	XP_005255182.1:p.Val1947Ala
XM_006720848.2:c.5996T>C	XP_006720911.1:p.Val1999Ala
XM_011522380.1:c.6203T>C	XP_011520682.1:p.Val2068Ala
XM_011522381.1:c.5504T>C	XP_011520683.1:p.Val1835Ala
XM_005255124.4:c.6212T>C	XP_005255181.1:p.Val2071Ala
XM_005255125.4:c.5840T>C	XP_005255182.1:p.Val1947Ala
XM_006720848.3:c.5996T>C	XP_006720911.1:p.Val1999Ala
XM_011522381.2:c.5504T>C	XP_011520683.1:p.Val1835Ala
XM_017022944.1:c.6251T>C	XP_016878433.1:p.Val2084Ala
NM_004380.3:c.6257T>C MANE Select	NP_004371.2:p.Val2086Ala