Canonical Allele Identifier: CA394554962

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778176A>G , CM000678.2:g.3778176A>G	GRCh38
NC_000016.9:g.3828177A>G , CM000678.1:g.3828177A>G	GRCh37
NC_000016.8:g.3768178A>G	NCBI36
NG_009873.1:g.106945T>C
NG_009873.2:g.107538T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.1948T>C MANE Select	NP_004371.2:p.Tyr650His
ENST00000262367.10:c.1948T>C MANE Select	ENSP00000262367.5:p.Tyr650His
NM_001079846.1:c.1834T>C	NP_001073315.1:p.Tyr612His
NM_004380.2:c.1948T>C	NP_004371.2:p.Tyr650His
ENST00000262367.9:c.1948T>C	ENSP00000262367.5:p.Tyr650His
ENST00000382070.7:c.1834T>C	ENSP00000371502.3:p.Tyr612His
ENST00000570939.2:c.553T>C	ENSP00000461002.2:p.Tyr185His
ENST00000572134.1:c.261T>C
ENST00000634839.1:n.110T>C
XM_005255124.3:c.1948T>C	XP_005255181.1:p.Tyr650His
XM_005255124.4:c.1948T>C	XP_005255181.1:p.Tyr650His
XM_005255125.3:c.1948T>C	XP_005255182.1:p.Tyr650His
XM_005255125.4:c.1948T>C	XP_005255182.1:p.Tyr650His
XM_006720848.2:c.1948T>C	XP_006720911.1:p.Tyr650His
XM_006720848.3:c.1948T>C	XP_006720911.1:p.Tyr650His
XM_011522380.1:c.1894T>C	XP_011520682.1:p.Tyr632His
XM_011522381.1:c.1195T>C	XP_011520683.1:p.Tyr399His
XM_011522381.2:c.1195T>C	XP_011520683.1:p.Tyr399His
XM_011522382.1:c.1948T>C	XP_011520684.1:p.Tyr650His
XM_011522382.3:c.1948T>C	XP_011520684.1:p.Tyr650His
XM_017022944.1:c.1948T>C	XP_016878433.1:p.Tyr650His