Canonical Allele Identifier: CA394569521

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3808903C>G (hg19) ; chr16:g.3758902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758902C>G , CM000678.2:g.3758902C>G	GRCh38
NC_000016.9:g.3808903C>G , CM000678.1:g.3808903C>G	GRCh37
NC_000016.8:g.3748904C>G	NCBI36
NG_009873.1:g.126219G>C
NG_009873.2:g.126812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3321G>C MANE Select	ENSP00000262367.5:p.Glu1107Asp
ENST00000262367.9:c.3321G>C	ENSP00000262367.5:p.Glu1107Asp
ENST00000382070.7:c.3207G>C	ENSP00000371502.3:p.Glu1069Asp
ENST00000570939.2:c.1926G>C	ENSP00000461002.2:p.Glu642Asp
NM_001079846.1:c.3207G>C	NP_001073315.1:p.Glu1069Asp
NM_004380.2:c.3321G>C	NP_004371.2:p.Glu1107Asp
XM_005255124.3:c.3276G>C	XP_005255181.1:p.Glu1092Asp
XM_005255125.3:c.2904G>C	XP_005255182.1:p.Glu968Asp
XM_006720848.2:c.3321G>C	XP_006720911.1:p.Glu1107Asp
XM_011522380.1:c.3267G>C	XP_011520682.1:p.Glu1089Asp
XM_011522381.1:c.2568G>C	XP_011520683.1:p.Glu856Asp
XM_011522382.1:c.3321G>C	XP_011520684.1:p.Glu1107Asp
XM_005255124.4:c.3276G>C	XP_005255181.1:p.Glu1092Asp
XM_005255125.4:c.2904G>C	XP_005255182.1:p.Glu968Asp
XM_006720848.3:c.3321G>C	XP_006720911.1:p.Glu1107Asp
XM_011522381.2:c.2568G>C	XP_011520683.1:p.Glu856Asp
XM_011522382.3:c.3321G>C	XP_011520684.1:p.Glu1107Asp
XM_017022944.1:c.3315G>C	XP_016878433.1:p.Glu1105Asp
NM_004380.3:c.3321G>C MANE Select	NP_004371.2:p.Glu1107Asp