Canonical Allele Identifier: CA394564588

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738656A>G , CM000678.2:g.3738656A>G	GRCh38
NC_000016.9:g.3788657A>G , CM000678.1:g.3788657A>G	GRCh37
NC_000016.8:g.3728658A>G	NCBI36
NG_009873.1:g.146465T>C
NG_009873.2:g.147058T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4297T>C MANE Select	NP_004371.2:p.Tyr1433His
ENST00000262367.10:c.4297T>C MANE Select	ENSP00000262367.5:p.Tyr1433His
NM_001079846.1:c.4183T>C	NP_001073315.1:p.Tyr1395His
NM_004380.2:c.4297T>C	NP_004371.2:p.Tyr1433His
ENST00000262367.9:c.4297T>C	ENSP00000262367.5:p.Tyr1433His
ENST00000382070.7:c.4183T>C	ENSP00000371502.3:p.Tyr1395His
ENST00000570939.2:c.2932T>C	ENSP00000461002.2:p.Tyr978His
ENST00000574740.1:n.215+1743T>C
ENST00000576720.1:n.3217+922T>C
XM_005255124.3:c.4252T>C	XP_005255181.1:p.Tyr1418His
XM_005255124.4:c.4252T>C	XP_005255181.1:p.Tyr1418His
XM_005255125.3:c.3880T>C	XP_005255182.1:p.Tyr1294His
XM_005255125.4:c.3880T>C	XP_005255182.1:p.Tyr1294His
XM_006720848.2:c.4133+1743T>C	XP_006720911.1:n.4133+1743T>C
XM_006720848.3:c.4133+1743T>C	XP_006720911.1:n.4133+1743T>C
XM_011522380.1:c.4243T>C	XP_011520682.1:p.Tyr1415His
XM_011522381.1:c.3544T>C	XP_011520683.1:p.Tyr1182His
XM_011522381.2:c.3544T>C	XP_011520683.1:p.Tyr1182His
XM_017022944.1:c.4291T>C	XP_016878433.1:p.Tyr1431His