Canonical Allele Identifier: CA2202958256
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs1596906550

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3777668A>C , CM000678.2:g.3777668A>C GRCh38
NC_000016.9:g.3827669A>C , CM000678.1:g.3827669A>C GRCh37
NC_000016.8:g.3767670A>C NCBI36
NG_009873.1:g.107453T>G
NG_009873.2:g.108046T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.2114-11T>G MANE Select ENSP00000262367.5:n.2114-11T>G
ENST00000262367.9:c.2114-11T>G ENSP00000262367.5:n.2114-11T>G
ENST00000382070.7:c.2000-11T>G ENSP00000371502.3:n.2000-11T>G
ENST00000570939.2:c.719-11T>G ENSP00000461002.2:n.719-11T>G
ENST00000571826.5:c.163-11T>G
ENST00000572134.1:c.426+343T>G
NM_001079846.1:c.2000-11T>G NP_001073315.1:n.2000-11T>G
NM_004380.2:c.2114-11T>G NP_004371.2:n.2114-11T>G
XM_005255124.3:c.2113+343T>G XP_005255181.1:n.2113+343T>G
XM_005255125.3:c.2114-11T>G XP_005255182.1:n.2114-11T>G
XM_006720848.2:c.2114-11T>G XP_006720911.1:n.2114-11T>G
XM_011522380.1:c.2060-11T>G XP_011520682.1:n.2060-11T>G
XM_011522381.1:c.1361-11T>G XP_011520683.1:n.1361-11T>G
XM_011522382.1:c.2114-11T>G XP_011520684.1:n.2114-11T>G
XM_005255124.4:c.2113+343T>G XP_005255181.1:n.2113+343T>G
XM_005255125.4:c.2114-11T>G XP_005255182.1:n.2114-11T>G
XM_006720848.3:c.2114-11T>G XP_006720911.1:n.2114-11T>G
XM_011522381.2:c.1361-11T>G XP_011520683.1:n.1361-11T>G
XM_011522382.3:c.2114-11T>G XP_011520684.1:n.2114-11T>G
XM_017022944.1:c.2114-11T>G XP_016878433.1:n.2114-11T>G
NM_004380.3:c.2114-11T>G MANE Select NP_004371.2:n.2114-11T>G