Canonical Allele Identifier: CA222692
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 95043
ClinVar RCV Id: RCV000081048
dbSNP Id: rs398124144
MyVariant Identifiers: chr16:g.3808887G>A (hg19) chr16:g.3758886G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3758886G>A , CM000678.2:g.3758886G>A GRCh38
NC_000016.9:g.3808887G>A , CM000678.1:g.3808887G>A GRCh37
NC_000016.8:g.3748888G>A NCBI36
NG_009873.1:g.126235C>T
NG_009873.2:g.126828C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3337C>T MANE Select ENSP00000262367.5:p.Gln1113Ter
ENST00000262367.9:c.3337C>T ENSP00000262367.5:p.Gln1113Ter
ENST00000382070.7:c.3223C>T ENSP00000371502.3:p.Gln1075Ter
ENST00000570939.2:c.1942C>T ENSP00000461002.2:p.Gln648Ter
NM_001079846.1:c.3223C>T NP_001073315.1:p.Gln1075Ter
NM_004380.2:c.3337C>T NP_004371.2:p.Gln1113Ter
XM_005255124.3:c.3292C>T XP_005255181.1:p.Gln1098Ter
XM_005255125.3:c.2920C>T XP_005255182.1:p.Gln974Ter
XM_006720848.2:c.3337C>T XP_006720911.1:p.Gln1113Ter
XM_011522380.1:c.3283C>T XP_011520682.1:p.Gln1095Ter
XM_011522381.1:c.2584C>T XP_011520683.1:p.Gln862Ter
XM_011522382.1:c.3337C>T XP_011520684.1:p.Gln1113Ter
XM_005255124.4:c.3292C>T XP_005255181.1:p.Gln1098Ter
XM_005255125.4:c.2920C>T XP_005255182.1:p.Gln974Ter
XM_006720848.3:c.3337C>T XP_006720911.1:p.Gln1113Ter
XM_011522381.2:c.2584C>T XP_011520683.1:p.Gln862Ter
XM_011522382.3:c.3337C>T XP_011520684.1:p.Gln1113Ter
XM_017022944.1:c.3331C>T XP_016878433.1:p.Gln1111Ter
NM_004380.3:c.3337C>T MANE Select NP_004371.2:p.Gln1113Ter
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