Canonical Allele Identifier: CA394550458
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727911T>A , CM000678.2:g.3727911T>A GRCh38
NC_000016.9:g.3777912T>A , CM000678.1:g.3777912T>A GRCh37
NC_000016.8:g.3717913T>A NCBI36
NG_009873.1:g.157210A>T
NG_009873.2:g.157803A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7136A>T MANE Select ENSP00000262367.5:p.Gln2379Leu
ENST00000262367.9:c.7136A>T ENSP00000262367.5:p.Gln2379Leu
ENST00000382070.7:c.7022A>T ENSP00000371502.3:p.Gln2341Leu
NM_001079846.1:c.7022A>T NP_001073315.1:p.Gln2341Leu
NM_004380.2:c.7136A>T NP_004371.2:p.Gln2379Leu
XM_005255124.3:c.7091A>T XP_005255181.1:p.Gln2364Leu
XM_005255125.3:c.6719A>T XP_005255182.1:p.Gln2240Leu
XM_006720848.2:c.6875A>T XP_006720911.1:p.Gln2292Leu
XM_011522380.1:c.7082A>T XP_011520682.1:p.Gln2361Leu
XM_011522381.1:c.6383A>T XP_011520683.1:p.Gln2128Leu
XM_005255124.4:c.7091A>T XP_005255181.1:p.Gln2364Leu
XM_005255125.4:c.6719A>T XP_005255182.1:p.Gln2240Leu
XM_006720848.3:c.6875A>T XP_006720911.1:p.Gln2292Leu
XM_011522381.2:c.6383A>T XP_011520683.1:p.Gln2128Leu
XM_017022944.1:c.7130A>T XP_016878433.1:p.Gln2377Leu
NM_004380.3:c.7136A>T MANE Select NP_004371.2:p.Gln2379Leu