Canonical Allele Identifier: CA394555140

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307613
• MyVariant Identifiers: chr16:g.3779176C>G (hg19) ; chr16:g.3729175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729175C>G , CM000678.2:g.3729175C>G	GRCh38
NC_000016.9:g.3779176C>G , CM000678.1:g.3779176C>G	GRCh37
NC_000016.8:g.3719177C>G	NCBI36
NG_009873.1:g.155946G>C
NG_009873.2:g.156539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5872G>C MANE Select	ENSP00000262367.5:p.Ala1958Pro
ENST00000262367.9:c.5872G>C	ENSP00000262367.5:p.Ala1958Pro
ENST00000382070.7:c.5758G>C	ENSP00000371502.3:p.Ala1920Pro
NM_001079846.1:c.5758G>C	NP_001073315.1:p.Ala1920Pro
NM_004380.2:c.5872G>C	NP_004371.2:p.Ala1958Pro
XM_005255124.3:c.5827G>C	XP_005255181.1:p.Ala1943Pro
XM_005255125.3:c.5455G>C	XP_005255182.1:p.Ala1819Pro
XM_006720848.2:c.5611G>C	XP_006720911.1:p.Ala1871Pro
XM_011522380.1:c.5818G>C	XP_011520682.1:p.Ala1940Pro
XM_011522381.1:c.5119G>C	XP_011520683.1:p.Ala1707Pro
XM_005255124.4:c.5827G>C	XP_005255181.1:p.Ala1943Pro
XM_005255125.4:c.5455G>C	XP_005255182.1:p.Ala1819Pro
XM_006720848.3:c.5611G>C	XP_006720911.1:p.Ala1871Pro
XM_011522381.2:c.5119G>C	XP_011520683.1:p.Ala1707Pro
XM_017022944.1:c.5866G>C	XP_016878433.1:p.Ala1956Pro
NM_004380.3:c.5872G>C MANE Select	NP_004371.2:p.Ala1958Pro