Canonical Allele Identifier: CA394550301
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151298550

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727836T>G , CM000678.2:g.3727836T>G GRCh38
NC_000016.9:g.3777837T>G , CM000678.1:g.3777837T>G GRCh37
NC_000016.8:g.3717838T>G NCBI36
NG_009873.1:g.157285A>C
NG_009873.2:g.157878A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7211A>C MANE Select ENSP00000262367.5:p.Glu2404Ala
ENST00000262367.9:c.7211A>C ENSP00000262367.5:p.Glu2404Ala
ENST00000382070.7:c.7097A>C ENSP00000371502.3:p.Glu2366Ala
NM_001079846.1:c.7097A>C NP_001073315.1:p.Glu2366Ala
NM_004380.2:c.7211A>C NP_004371.2:p.Glu2404Ala
XM_005255124.3:c.7166A>C XP_005255181.1:p.Glu2389Ala
XM_005255125.3:c.6794A>C XP_005255182.1:p.Glu2265Ala
XM_006720848.2:c.6950A>C XP_006720911.1:p.Glu2317Ala
XM_011522380.1:c.7157A>C XP_011520682.1:p.Glu2386Ala
XM_011522381.1:c.6458A>C XP_011520683.1:p.Glu2153Ala
XM_005255124.4:c.7166A>C XP_005255181.1:p.Glu2389Ala
XM_005255125.4:c.6794A>C XP_005255182.1:p.Glu2265Ala
XM_006720848.3:c.6950A>C XP_006720911.1:p.Glu2317Ala
XM_011522381.2:c.6458A>C XP_011520683.1:p.Glu2153Ala
XM_017022944.1:c.7205A>C XP_016878433.1:p.Glu2402Ala
NM_004380.3:c.7211A>C MANE Select NP_004371.2:p.Glu2404Ala