Canonical Allele Identifier: CA394552855

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3773794C>G , CM000678.2:g.3773794C>G	GRCh38
NC_000016.9:g.3823795C>G , CM000678.1:g.3823795C>G	GRCh37
NC_000016.8:g.3763796C>G	NCBI36
NG_009873.1:g.111327G>C
NG_009873.2:g.111920G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2420G>C MANE Select	NP_004371.2:p.Ser807Thr
ENST00000262367.10:c.2420G>C MANE Select	ENSP00000262367.5:p.Ser807Thr
NM_001079846.1:c.2306G>C	NP_001073315.1:p.Ser769Thr
NM_004380.2:c.2420G>C	NP_004371.2:p.Ser807Thr
ENST00000262367.9:c.2420G>C	ENSP00000262367.5:p.Ser807Thr
ENST00000382070.7:c.2306G>C	ENSP00000371502.3:p.Ser769Thr
ENST00000570939.2:c.1025G>C	ENSP00000461002.2:p.Ser342Thr
ENST00000571826.5:c.469G>C
ENST00000572134.1:c.688G>C
ENST00000575237.2:n.315G>C
XM_005255124.3:c.2375G>C	XP_005255181.1:p.Ser792Thr
XM_005255124.4:c.2375G>C	XP_005255181.1:p.Ser792Thr
XM_005255125.3:c.2420G>C	XP_005255182.1:p.Ser807Thr
XM_005255125.4:c.2420G>C	XP_005255182.1:p.Ser807Thr
XM_006720848.2:c.2420G>C	XP_006720911.1:p.Ser807Thr
XM_006720848.3:c.2420G>C	XP_006720911.1:p.Ser807Thr
XM_011522380.1:c.2366G>C	XP_011520682.1:p.Ser789Thr
XM_011522381.1:c.1667G>C	XP_011520683.1:p.Ser556Thr
XM_011522381.2:c.1667G>C	XP_011520683.1:p.Ser556Thr
XM_011522382.1:c.2420G>C	XP_011520684.1:p.Ser807Thr
XM_011522382.3:c.2420G>C	XP_011520684.1:p.Ser807Thr
XM_017022944.1:c.2420G>C	XP_016878433.1:p.Ser807Thr