Canonical Allele Identifier: CA277007885
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs978232300
gnomAD v2: 16-3860755-G-A
gnomAD v4: 16-3810754-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3810754G>A , CM000678.2:g.3810754G>A GRCh38
NC_000016.9:g.3860755G>A , CM000678.1:g.3860755G>A GRCh37
NC_000016.8:g.3800756G>A NCBI36
NG_009873.1:g.74367C>T
NG_009873.2:g.74960C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.824C>T MANE Select ENSP00000262367.5:p.Pro275Leu
ENST00000635899.1:n.66C>T
ENST00000262367.9:c.824C>T ENSP00000262367.5:p.Pro275Leu
ENST00000382070.7:c.824C>T ENSP00000371502.3:p.Pro275Leu
NM_001079846.1:c.824C>T NP_001073315.1:p.Pro275Leu
NM_004380.2:c.824C>T NP_004371.2:p.Pro275Leu
XM_005255124.3:c.824C>T XP_005255181.1:p.Pro275Leu
XM_005255125.3:c.824C>T XP_005255182.1:p.Pro275Leu
XM_006720848.2:c.824C>T XP_006720911.1:p.Pro275Leu
XM_011522380.1:c.770C>T XP_011520682.1:p.Pro257Leu
XM_011522381.1:c.71C>T XP_011520683.1:p.Pro24Leu
XM_011522382.1:c.824C>T XP_011520684.1:p.Pro275Leu
XM_005255124.4:c.824C>T XP_005255181.1:p.Pro275Leu
XM_005255125.4:c.824C>T XP_005255182.1:p.Pro275Leu
XM_006720848.3:c.824C>T XP_006720911.1:p.Pro275Leu
XM_011522381.2:c.71C>T XP_011520683.1:p.Pro24Leu
XM_011522382.3:c.824C>T XP_011520684.1:p.Pro275Leu
XM_017022944.1:c.824C>T XP_016878433.1:p.Pro275Leu
NM_004380.3:c.824C>T MANE Select NP_004371.2:p.Pro275Leu