Canonical Allele Identifier: CA222694
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 95046
ClinVar RCV Id: RCV000081051 RCV000499536
dbSNP Id: rs398124145
MyVariant Identifiers: chr16:g.3794894C>T (hg19) chr16:g.3744893C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3744893C>T , CM000678.2:g.3744893C>T GRCh38
NC_000016.9:g.3794894C>T , CM000678.1:g.3794894C>T GRCh37
NC_000016.8:g.3734895C>T NCBI36
NG_009873.1:g.140228G>A
NG_009873.2:g.140821G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3982+1G>A MANE Select ENSP00000262367.5:n.3982+1G>A
ENST00000635919.1:n.30+1G>A
ENST00000262367.9:c.3982+1G>A ENSP00000262367.5:n.3982+1G>A
ENST00000382070.7:c.3868+1G>A ENSP00000371502.3:n.3868+1G>A
ENST00000570939.2:c.2617+1G>A ENSP00000461002.2:n.2617+1G>A
ENST00000572569.1:n.446+1G>A
ENST00000573517.6:c.288+1G>A
ENST00000574740.1:n.64+1G>A
NM_001079846.1:c.3868+1G>A NP_001073315.1:n.3868+1G>A
NM_004380.2:c.3982+1G>A NP_004371.2:n.3982+1G>A
XM_005255124.3:c.3937+1G>A XP_005255181.1:n.3937+1G>A
XM_005255125.3:c.3565+1G>A XP_005255182.1:n.3565+1G>A
XM_006720848.2:c.3982+1G>A XP_006720911.1:n.3982+1G>A
XM_011522380.1:c.3928+1G>A XP_011520682.1:n.3928+1G>A
XM_011522381.1:c.3229+1G>A XP_011520683.1:n.3229+1G>A
XM_005255124.4:c.3937+1G>A XP_005255181.1:n.3937+1G>A
XM_005255125.4:c.3565+1G>A XP_005255182.1:n.3565+1G>A
XM_006720848.3:c.3982+1G>A XP_006720911.1:n.3982+1G>A
XM_011522381.2:c.3229+1G>A XP_011520683.1:n.3229+1G>A
XM_017022944.1:c.3976+1G>A XP_016878433.1:n.3976+1G>A
NM_004380.3:c.3982+1G>A MANE Select NP_004371.2:n.3982+1G>A
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