Canonical Allele Identifier: CA7869163
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs758905484
gnomAD v2: 16-3778858-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728857G>T , CM000678.2:g.3728857G>T GRCh38
NC_000016.9:g.3778858G>T , CM000678.1:g.3778858G>T GRCh37
NC_000016.8:g.3718859G>T NCBI36
NG_009873.1:g.156264C>A
NG_009873.2:g.156857C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6190C>A MANE Select ENSP00000262367.5:p.Pro2064Thr
ENST00000262367.9:c.6190C>A ENSP00000262367.5:p.Pro2064Thr
ENST00000382070.7:c.6076C>A ENSP00000371502.3:p.Pro2026Thr
NM_001079846.1:c.6076C>A NP_001073315.1:p.Pro2026Thr
NM_004380.2:c.6190C>A NP_004371.2:p.Pro2064Thr
XM_005255124.3:c.6145C>A XP_005255181.1:p.Pro2049Thr
XM_005255125.3:c.5773C>A XP_005255182.1:p.Pro1925Thr
XM_006720848.2:c.5929C>A XP_006720911.1:p.Pro1977Thr
XM_011522380.1:c.6136C>A XP_011520682.1:p.Pro2046Thr
XM_011522381.1:c.5437C>A XP_011520683.1:p.Pro1813Thr
XM_005255124.4:c.6145C>A XP_005255181.1:p.Pro2049Thr
XM_005255125.4:c.5773C>A XP_005255182.1:p.Pro1925Thr
XM_006720848.3:c.5929C>A XP_006720911.1:p.Pro1977Thr
XM_011522381.2:c.5437C>A XP_011520683.1:p.Pro1813Thr
XM_017022944.1:c.6184C>A XP_016878433.1:p.Pro2062Thr
NM_004380.3:c.6190C>A MANE Select NP_004371.2:p.Pro2064Thr