Canonical Allele Identifier: CA2575894538
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3850257G>T , CM000678.2:g.3850257G>T GRCh38
NC_000016.9:g.3900258G>T , CM000678.1:g.3900258G>T GRCh37
NC_000016.8:g.3840259G>T NCBI36
NG_009873.1:g.34864C>A
NG_009873.2:g.35457C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.798+40C>A MANE Select ENSP00000262367.5:n.798+40C>A
ENST00000636895.1:n.25+40C>A
ENST00000262367.9:c.798+40C>A ENSP00000262367.5:n.798+40C>A
ENST00000382070.7:c.798+40C>A ENSP00000371502.3:n.798+40C>A
NM_001079846.1:c.798+40C>A NP_001073315.1:n.798+40C>A
NM_004380.2:c.798+40C>A NP_004371.2:n.798+40C>A
XM_005255124.3:c.798+40C>A XP_005255181.1:n.798+40C>A
XM_005255125.3:c.798+40C>A XP_005255182.1:n.798+40C>A
XM_006720848.2:c.798+40C>A XP_006720911.1:n.798+40C>A
XM_011522380.1:c.744+40C>A XP_011520682.1:n.744+40C>A
XM_011522382.1:c.798+40C>A XP_011520684.1:n.798+40C>A
XM_005255124.4:c.798+40C>A XP_005255181.1:n.798+40C>A
XM_005255125.4:c.798+40C>A XP_005255182.1:n.798+40C>A
XM_006720848.3:c.798+40C>A XP_006720911.1:n.798+40C>A
XM_011522382.3:c.798+40C>A XP_011520684.1:n.798+40C>A
XM_017022944.1:c.798+40C>A XP_016878433.1:n.798+40C>A
NM_004380.3:c.798+40C>A MANE Select NP_004371.2:n.798+40C>A