Canonical Allele Identifier: CA276972076

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729286A>G , CM000678.2:g.3729286A>G	GRCh38
NC_000016.9:g.3779287A>G , CM000678.1:g.3779287A>G	GRCh37
NC_000016.8:g.3719288A>G	NCBI36
NG_009873.1:g.155835T>C
NG_009873.2:g.156428T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5761T>C MANE Select	NP_004371.2:p.Phe1921Leu
ENST00000262367.10:c.5761T>C MANE Select	ENSP00000262367.5:p.Phe1921Leu
NM_001079846.1:c.5647T>C	NP_001073315.1:p.Phe1883Leu
NM_004380.2:c.5761T>C	NP_004371.2:p.Phe1921Leu
ENST00000262367.9:c.5761T>C	ENSP00000262367.5:p.Phe1921Leu
ENST00000382070.7:c.5647T>C	ENSP00000371502.3:p.Phe1883Leu
XM_005255124.3:c.5716T>C	XP_005255181.1:p.Phe1906Leu
XM_005255124.4:c.5716T>C	XP_005255181.1:p.Phe1906Leu
XM_005255125.3:c.5344T>C	XP_005255182.1:p.Phe1782Leu
XM_005255125.4:c.5344T>C	XP_005255182.1:p.Phe1782Leu
XM_006720848.2:c.5500T>C	XP_006720911.1:p.Phe1834Leu
XM_006720848.3:c.5500T>C	XP_006720911.1:p.Phe1834Leu
XM_011522380.1:c.5707T>C	XP_011520682.1:p.Phe1903Leu
XM_011522381.1:c.5008T>C	XP_011520683.1:p.Phe1670Leu
XM_011522381.2:c.5008T>C	XP_011520683.1:p.Phe1670Leu
XM_017022944.1:c.5755T>C	XP_016878433.1:p.Phe1919Leu