Canonical Allele Identifier: CA394553981

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305738
• gnomAD v4: 16-3728877-T-G
• MyVariant Identifiers: chr16:g.3778878T>G (hg19) ; chr16:g.3728877T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728877T>G , CM000678.2:g.3728877T>G	GRCh38
NC_000016.9:g.3778878T>G , CM000678.1:g.3778878T>G	GRCh37
NC_000016.8:g.3718879T>G	NCBI36
NG_009873.1:g.156244A>C
NG_009873.2:g.156837A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6170A>C MANE Select	ENSP00000262367.5:p.Gln2057Pro
ENST00000262367.9:c.6170A>C	ENSP00000262367.5:p.Gln2057Pro
ENST00000382070.7:c.6056A>C	ENSP00000371502.3:p.Gln2019Pro
NM_001079846.1:c.6056A>C	NP_001073315.1:p.Gln2019Pro
NM_004380.2:c.6170A>C	NP_004371.2:p.Gln2057Pro
XM_005255124.3:c.6125A>C	XP_005255181.1:p.Gln2042Pro
XM_005255125.3:c.5753A>C	XP_005255182.1:p.Gln1918Pro
XM_006720848.2:c.5909A>C	XP_006720911.1:p.Gln1970Pro
XM_011522380.1:c.6116A>C	XP_011520682.1:p.Gln2039Pro
XM_011522381.1:c.5417A>C	XP_011520683.1:p.Gln1806Pro
XM_005255124.4:c.6125A>C	XP_005255181.1:p.Gln2042Pro
XM_005255125.4:c.5753A>C	XP_005255182.1:p.Gln1918Pro
XM_006720848.3:c.5909A>C	XP_006720911.1:p.Gln1970Pro
XM_011522381.2:c.5417A>C	XP_011520683.1:p.Gln1806Pro
XM_017022944.1:c.6164A>C	XP_016878433.1:p.Gln2055Pro
NM_004380.3:c.6170A>C MANE Select	NP_004371.2:p.Gln2057Pro