Canonical Allele Identifier: CA394555361

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729225-T-G
• MyVariant Identifiers: chr16:g.3779226T>G (hg19) ; chr16:g.3729225T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729225T>G , CM000678.2:g.3729225T>G	GRCh38
NC_000016.9:g.3779226T>G , CM000678.1:g.3779226T>G	GRCh37
NC_000016.8:g.3719227T>G	NCBI36
NG_009873.1:g.155896A>C
NG_009873.2:g.156489A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5822A>C MANE Select	ENSP00000262367.5:p.Gln1941Pro
ENST00000262367.9:c.5822A>C	ENSP00000262367.5:p.Gln1941Pro
ENST00000382070.7:c.5708A>C	ENSP00000371502.3:p.Gln1903Pro
NM_001079846.1:c.5708A>C	NP_001073315.1:p.Gln1903Pro
NM_004380.2:c.5822A>C	NP_004371.2:p.Gln1941Pro
XM_005255124.3:c.5777A>C	XP_005255181.1:p.Gln1926Pro
XM_005255125.3:c.5405A>C	XP_005255182.1:p.Gln1802Pro
XM_006720848.2:c.5561A>C	XP_006720911.1:p.Gln1854Pro
XM_011522380.1:c.5768A>C	XP_011520682.1:p.Gln1923Pro
XM_011522381.1:c.5069A>C	XP_011520683.1:p.Gln1690Pro
XM_005255124.4:c.5777A>C	XP_005255181.1:p.Gln1926Pro
XM_005255125.4:c.5405A>C	XP_005255182.1:p.Gln1802Pro
XM_006720848.3:c.5561A>C	XP_006720911.1:p.Gln1854Pro
XM_011522381.2:c.5069A>C	XP_011520683.1:p.Gln1690Pro
XM_017022944.1:c.5816A>C	XP_016878433.1:p.Gln1939Pro
NM_004380.3:c.5822A>C MANE Select	NP_004371.2:p.Gln1941Pro