Canonical Allele Identifier: CA2202917175
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3730075G= , CM000678.2:g.3730075G= GRCh38
NC_000016.9:g.3780076G= , CM000678.1:g.3780076G= GRCh37
NC_000016.8:g.3720077G= NCBI36
NG_009873.1:g.155046C=
NG_009873.2:g.155639C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5173-201C= MANE Select ENSP00000262367.5:n.5173-201C=
ENST00000262367.9:c.5173-201C= ENSP00000262367.5:n.5173-201C=
ENST00000382070.7:c.5059-201C= ENSP00000371502.3:n.5059-201C=
NM_001079846.1:c.5059-201C= NP_001073315.1:n.5059-201C=
NM_004380.2:c.5173-201C= NP_004371.2:n.5173-201C=
XM_005255124.3:c.5128-201C= XP_005255181.1:n.5128-201C=
XM_005255125.3:c.4756-201C= XP_005255182.1:n.4756-201C=
XM_006720848.2:c.4912-201C= XP_006720911.1:n.4912-201C=
XM_011522380.1:c.5119-201C= XP_011520682.1:n.5119-201C=
XM_011522381.1:c.4420-201C= XP_011520683.1:n.4420-201C=
XM_005255124.4:c.5128-201C= XP_005255181.1:n.5128-201C=
XM_005255125.4:c.4756-201C= XP_005255182.1:n.4756-201C=
XM_006720848.3:c.4912-201C= XP_006720911.1:n.4912-201C=
XM_011522381.2:c.4420-201C= XP_011520683.1:n.4420-201C=
XM_017022944.1:c.5167-201C= XP_016878433.1:n.5167-201C=
NM_004380.3:c.5173-201C= MANE Select NP_004371.2:n.5173-201C=