Canonical Allele Identifier: CA7869182

Gene: CREBBP

Linked Data

• dbSNP Id: rs752108621
• ExAC: 16:3778939 T / G
• gnomAD v2: 16-3778939-T-G
• gnomAD v4: 16-3728938-T-G
• MyVariant Identifiers: chr16:g.3778939T>G (hg19) ; chr16:g.3728938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728938T>G , CM000678.2:g.3728938T>G	GRCh38
NC_000016.9:g.3778939T>G , CM000678.1:g.3778939T>G	GRCh37
NC_000016.8:g.3718940T>G	NCBI36
NG_009873.1:g.156183A>C
NG_009873.2:g.156776A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6109A>C MANE Select	ENSP00000262367.5:p.Arg2037=
ENST00000262367.9:c.6109A>C	ENSP00000262367.5:p.Arg2037=
ENST00000382070.7:c.5995A>C	ENSP00000371502.3:p.Arg1999=
NM_001079846.1:c.5995A>C	NP_001073315.1:p.Arg1999=
NM_004380.2:c.6109A>C	NP_004371.2:p.Arg2037=
XM_005255124.3:c.6064A>C	XP_005255181.1:p.Arg2022=
XM_005255125.3:c.5692A>C	XP_005255182.1:p.Arg1898=
XM_006720848.2:c.5848A>C	XP_006720911.1:p.Arg1950=
XM_011522380.1:c.6055A>C	XP_011520682.1:p.Arg2019=
XM_011522381.1:c.5356A>C	XP_011520683.1:p.Arg1786=
XM_005255124.4:c.6064A>C	XP_005255181.1:p.Arg2022=
XM_005255125.4:c.5692A>C	XP_005255182.1:p.Arg1898=
XM_006720848.3:c.5848A>C	XP_006720911.1:p.Arg1950=
XM_011522381.2:c.5356A>C	XP_011520683.1:p.Arg1786=
XM_017022944.1:c.6103A>C	XP_016878433.1:p.Arg2035=
NM_004380.3:c.6109A>C MANE Select	NP_004371.2:p.Arg2037=