Canonical Allele Identifier: CA277012

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757928C>G , CM000678.2:g.3757928C>G	GRCh38
NC_000016.9:g.3807929C>G , CM000678.1:g.3807929C>G	GRCh37
NC_000016.8:g.3747930C>G	NCBI36
NG_009873.1:g.127193G>C
NG_009873.2:g.127786G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3490G>C MANE Select	ENSP00000262367.5:p.Ala1164Pro
ENST00000262367.9:c.3490G>C	ENSP00000262367.5:p.Ala1164Pro
ENST00000382070.7:c.3376G>C	ENSP00000371502.3:p.Ala1126Pro
ENST00000570939.2:c.2095G>C	ENSP00000461002.2:p.Ala699Pro
NM_001079846.1:c.3376G>C	NP_001073315.1:p.Ala1126Pro
NM_004380.2:c.3490G>C	NP_004371.2:p.Ala1164Pro
XM_005255124.3:c.3445G>C	XP_005255181.1:p.Ala1149Pro
XM_005255125.3:c.3073G>C	XP_005255182.1:p.Ala1025Pro
XM_006720848.2:c.3490G>C	XP_006720911.1:p.Ala1164Pro
XM_011522380.1:c.3436G>C	XP_011520682.1:p.Ala1146Pro
XM_011522381.1:c.2737G>C	XP_011520683.1:p.Ala913Pro
XM_011522382.1:c.3490G>C	XP_011520684.1:p.Ala1164Pro
XM_005255124.4:c.3445G>C	XP_005255181.1:p.Ala1149Pro
XM_005255125.4:c.3073G>C	XP_005255182.1:p.Ala1025Pro
XM_006720848.3:c.3490G>C	XP_006720911.1:p.Ala1164Pro
XM_011522381.2:c.2737G>C	XP_011520683.1:p.Ala913Pro
XM_011522382.3:c.3490G>C	XP_011520684.1:p.Ala1164Pro
XM_017022944.1:c.3484G>C	XP_016878433.1:p.Ala1162Pro
NM_004380.3:c.3490G>C MANE Select	NP_004371.2:p.Ala1164Pro