Canonical Allele Identifier: CA2202917196
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3730078G= , CM000678.2:g.3730078G= GRCh38
NC_000016.9:g.3780079G= , CM000678.1:g.3780079G= GRCh37
NC_000016.8:g.3720080G= NCBI36
NG_009873.1:g.155043C=
NG_009873.2:g.155636C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5173-204C= MANE Select ENSP00000262367.5:n.5173-204C=
ENST00000262367.9:c.5173-204C= ENSP00000262367.5:n.5173-204C=
ENST00000382070.7:c.5059-204C= ENSP00000371502.3:n.5059-204C=
NM_001079846.1:c.5059-204C= NP_001073315.1:n.5059-204C=
NM_004380.2:c.5173-204C= NP_004371.2:n.5173-204C=
XM_005255124.3:c.5128-204C= XP_005255181.1:n.5128-204C=
XM_005255125.3:c.4756-204C= XP_005255182.1:n.4756-204C=
XM_006720848.2:c.4912-204C= XP_006720911.1:n.4912-204C=
XM_011522380.1:c.5119-204C= XP_011520682.1:n.5119-204C=
XM_011522381.1:c.4420-204C= XP_011520683.1:n.4420-204C=
XM_005255124.4:c.5128-204C= XP_005255181.1:n.5128-204C=
XM_005255125.4:c.4756-204C= XP_005255182.1:n.4756-204C=
XM_006720848.3:c.4912-204C= XP_006720911.1:n.4912-204C=
XM_011522381.2:c.4420-204C= XP_011520683.1:n.4420-204C=
XM_017022944.1:c.5167-204C= XP_016878433.1:n.5167-204C=
NM_004380.3:c.5173-204C= MANE Select NP_004371.2:n.5173-204C=