Canonical Allele Identifier: CA276136

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729433T>C , CM000678.2:g.3729433T>C	GRCh38
NC_000016.9:g.3779434T>C , CM000678.1:g.3779434T>C	GRCh37
NC_000016.8:g.3719435T>C	NCBI36
NG_009873.1:g.155688A>G
NG_009873.2:g.156281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5614A>G MANE Select	ENSP00000262367.5:p.Met1872Val
ENST00000262367.9:c.5614A>G	ENSP00000262367.5:p.Met1872Val
ENST00000382070.7:c.5500A>G	ENSP00000371502.3:p.Met1834Val
NM_001079846.1:c.5500A>G	NP_001073315.1:p.Met1834Val
NM_004380.2:c.5614A>G	NP_004371.2:p.Met1872Val
XM_005255124.3:c.5569A>G	XP_005255181.1:p.Met1857Val
XM_005255125.3:c.5197A>G	XP_005255182.1:p.Met1733Val
XM_006720848.2:c.5353A>G	XP_006720911.1:p.Met1785Val
XM_011522380.1:c.5560A>G	XP_011520682.1:p.Met1854Val
XM_011522381.1:c.4861A>G	XP_011520683.1:p.Met1621Val
XM_005255124.4:c.5569A>G	XP_005255181.1:p.Met1857Val
XM_005255125.4:c.5197A>G	XP_005255182.1:p.Met1733Val
XM_006720848.3:c.5353A>G	XP_006720911.1:p.Met1785Val
XM_011522381.2:c.4861A>G	XP_011520683.1:p.Met1621Val
XM_017022944.1:c.5608A>G	XP_016878433.1:p.Met1870Val
NM_004380.3:c.5614A>G MANE Select	NP_004371.2:p.Met1872Val