Canonical Allele Identifier: CA394554450
Gene: CREBBP HGNC NCBI

Linked Data

gnomAD v4: 16-3778067-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778067G>T , CM000678.2:g.3778067G>T GRCh38
NC_000016.9:g.3828068G>T , CM000678.1:g.3828068G>T GRCh37
NC_000016.8:g.3768069G>T NCBI36
NG_009873.1:g.107054C>A
NG_009873.2:g.107647C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2057C>A MANE Select ENSP00000262367.5:p.Pro686Gln
ENST00000262367.9:c.2057C>A ENSP00000262367.5:p.Pro686Gln
ENST00000382070.7:c.1943C>A ENSP00000371502.3:p.Pro648Gln
ENST00000570939.2:c.662C>A ENSP00000461002.2:p.Pro221Gln
ENST00000571826.5:c.106C>A
ENST00000572134.1:c.370C>A
ENST00000634839.1:n.219C>A
NM_001079846.1:c.1943C>A NP_001073315.1:p.Pro648Gln
NM_004380.2:c.2057C>A NP_004371.2:p.Pro686Gln
XM_005255124.3:c.2057C>A XP_005255181.1:p.Pro686Gln
XM_005255125.3:c.2057C>A XP_005255182.1:p.Pro686Gln
XM_006720848.2:c.2057C>A XP_006720911.1:p.Pro686Gln
XM_011522380.1:c.2003C>A XP_011520682.1:p.Pro668Gln
XM_011522381.1:c.1304C>A XP_011520683.1:p.Pro435Gln
XM_011522382.1:c.2057C>A XP_011520684.1:p.Pro686Gln
XM_005255124.4:c.2057C>A XP_005255181.1:p.Pro686Gln
XM_005255125.4:c.2057C>A XP_005255182.1:p.Pro686Gln
XM_006720848.3:c.2057C>A XP_006720911.1:p.Pro686Gln
XM_011522381.2:c.1304C>A XP_011520683.1:p.Pro435Gln
XM_011522382.3:c.2057C>A XP_011520684.1:p.Pro686Gln
XM_017022944.1:c.2057C>A XP_016878433.1:p.Pro686Gln
NM_004380.3:c.2057C>A MANE Select NP_004371.2:p.Pro686Gln