Canonical Allele Identifier: CA394567311

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3749631C>G , CM000678.2:g.3749631C>G	GRCh38
NC_000016.9:g.3799632C>G , CM000678.1:g.3799632C>G	GRCh37
NC_000016.8:g.3739633C>G	NCBI36
NG_009873.1:g.135490G>C
NG_009873.2:g.136083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3832G>C MANE Select	ENSP00000262367.5:p.Glu1278Gln
ENST00000638158.1:n.53G>C
ENST00000262367.9:c.3832G>C	ENSP00000262367.5:p.Glu1278Gln
ENST00000382070.7:c.3718G>C	ENSP00000371502.3:p.Glu1240Gln
ENST00000570939.2:c.2467G>C	ENSP00000461002.2:p.Glu823Gln
ENST00000573517.6:c.138G>C
NM_001079846.1:c.3718G>C	NP_001073315.1:p.Glu1240Gln
NM_004380.2:c.3832G>C	NP_004371.2:p.Glu1278Gln
XM_005255124.3:c.3787G>C	XP_005255181.1:p.Glu1263Gln
XM_005255125.3:c.3415G>C	XP_005255182.1:p.Glu1139Gln
XM_006720848.2:c.3832G>C	XP_006720911.1:p.Glu1278Gln
XM_011522380.1:c.3778G>C	XP_011520682.1:p.Glu1260Gln
XM_011522381.1:c.3079G>C	XP_011520683.1:p.Glu1027Gln
XM_011522382.1:c.3832G>C	XP_011520684.1:p.Glu1278Gln
XM_005255124.4:c.3787G>C	XP_005255181.1:p.Glu1263Gln
XM_005255125.4:c.3415G>C	XP_005255182.1:p.Glu1139Gln
XM_006720848.3:c.3832G>C	XP_006720911.1:p.Glu1278Gln
XM_011522381.2:c.3079G>C	XP_011520683.1:p.Glu1027Gln
XM_011522382.3:c.3832G>C	XP_011520684.1:p.Glu1278Gln
XM_017022944.1:c.3826G>C	XP_016878433.1:p.Glu1276Gln
NM_004380.3:c.3832G>C MANE Select	NP_004371.2:p.Glu1278Gln