Canonical Allele Identifier: CA2731567157
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs55824810

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736638A>T , CM000678.2:g.3736638A>T GRCh38
NC_000016.9:g.3786639A>T , CM000678.1:g.3786639A>T GRCh37
NC_000016.8:g.3726640A>T NCBI36
NG_009873.1:g.148483T>A
NG_009873.2:g.149076T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.4560+12T>A MANE Select ENSP00000262367.5:n.4560+12T>A
ENST00000262367.9:c.4560+12T>A ENSP00000262367.5:n.4560+12T>A
ENST00000382070.7:c.4446+12T>A ENSP00000371502.3:n.4446+12T>A
ENST00000570939.2:c.3195+12T>A ENSP00000461002.2:n.3195+12T>A
ENST00000571763.5:n.350+12T>A
ENST00000574740.1:n.393T>A
ENST00000576720.1:n.3383+12T>A
NM_001079846.1:c.4446+12T>A NP_001073315.1:n.4446+12T>A
NM_004380.2:c.4560+12T>A NP_004371.2:n.4560+12T>A
XM_005255124.3:c.4515+12T>A XP_005255181.1:n.4515+12T>A
XM_005255125.3:c.4143+12T>A XP_005255182.1:n.4143+12T>A
XM_006720848.2:c.4299+12T>A XP_006720911.1:n.4299+12T>A
XM_011522380.1:c.4506+12T>A XP_011520682.1:n.4506+12T>A
XM_011522381.1:c.3807+12T>A XP_011520683.1:n.3807+12T>A
XM_005255124.4:c.4515+12T>A XP_005255181.1:n.4515+12T>A
XM_005255125.4:c.4143+12T>A XP_005255182.1:n.4143+12T>A
XM_006720848.3:c.4299+12T>A XP_006720911.1:n.4299+12T>A
XM_011522381.2:c.3807+12T>A XP_011520683.1:n.3807+12T>A
XM_017022944.1:c.4554+12T>A XP_016878433.1:n.4554+12T>A
NM_004380.3:c.4560+12T>A MANE Select NP_004371.2:n.4560+12T>A