Canonical Allele Identifier: CA2202916304
Community Standard Title: NM_004380.3(CREBBP):c.5821C= (p.Gln1941=)
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729226G= , CM000678.2:g.3729226G= GRCh38
NC_000016.9:g.3779227G= , CM000678.1:g.3779227G= GRCh37
NC_000016.8:g.3719228G= NCBI36
NG_009873.1:g.155895C=
NG_009873.2:g.156488C=

Transcript Alleles

HGVS Amino-acid Change
NM_004380.3:c.5821C= MANE Select NP_004371.2:p.Gln1941=
ENST00000262367.10:c.5821C= MANE Select ENSP00000262367.5:p.Gln1941=
NM_001079846.1:c.5707C= NP_001073315.1:p.Gln1903=
NM_004380.2:c.5821C= NP_004371.2:p.Gln1941=
ENST00000262367.9:c.5821C= ENSP00000262367.5:p.Gln1941=
ENST00000382070.7:c.5707C= ENSP00000371502.3:p.Gln1903=
XM_005255124.3:c.5776C= XP_005255181.1:p.Gln1926=
XM_005255124.4:c.5776C= XP_005255181.1:p.Gln1926=
XM_005255125.3:c.5404C= XP_005255182.1:p.Gln1802=
XM_005255125.4:c.5404C= XP_005255182.1:p.Gln1802=
XM_006720848.2:c.5560C= XP_006720911.1:p.Gln1854=
XM_006720848.3:c.5560C= XP_006720911.1:p.Gln1854=
XM_011522380.1:c.5767C= XP_011520682.1:p.Gln1923=
XM_011522381.1:c.5068C= XP_011520683.1:p.Gln1690=
XM_011522381.2:c.5068C= XP_011520683.1:p.Gln1690=
XM_017022944.1:c.5815C= XP_016878433.1:p.Gln1939=