Canonical Allele Identifier: CA394556073
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151310088

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729511T>A , CM000678.2:g.3729511T>A GRCh38
NC_000016.9:g.3779512T>A , CM000678.1:g.3779512T>A GRCh37
NC_000016.8:g.3719513T>A NCBI36
NG_009873.1:g.155610A>T
NG_009873.2:g.156203A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5536A>T MANE Select ENSP00000262367.5:p.Ile1846Phe
ENST00000262367.9:c.5536A>T ENSP00000262367.5:p.Ile1846Phe
ENST00000382070.7:c.5422A>T ENSP00000371502.3:p.Ile1808Phe
NM_001079846.1:c.5422A>T NP_001073315.1:p.Ile1808Phe
NM_004380.2:c.5536A>T NP_004371.2:p.Ile1846Phe
XM_005255124.3:c.5491A>T XP_005255181.1:p.Ile1831Phe
XM_005255125.3:c.5119A>T XP_005255182.1:p.Ile1707Phe
XM_006720848.2:c.5275A>T XP_006720911.1:p.Ile1759Phe
XM_011522380.1:c.5482A>T XP_011520682.1:p.Ile1828Phe
XM_011522381.1:c.4783A>T XP_011520683.1:p.Ile1595Phe
XM_005255124.4:c.5491A>T XP_005255181.1:p.Ile1831Phe
XM_005255125.4:c.5119A>T XP_005255182.1:p.Ile1707Phe
XM_006720848.3:c.5275A>T XP_006720911.1:p.Ile1759Phe
XM_011522381.2:c.4783A>T XP_011520683.1:p.Ile1595Phe
XM_017022944.1:c.5530A>T XP_016878433.1:p.Ile1844Phe
NM_004380.3:c.5536A>T MANE Select NP_004371.2:p.Ile1846Phe