Canonical Allele Identifier: CA493394662
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3843412A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3793411A>G , CM000678.2:g.3793411A>G GRCh38
NC_000016.9:g.3843412A>G , CM000678.1:g.3843412A>G GRCh37
NC_000016.8:g.3783413A>G NCBI36
NG_009873.1:g.91710T>C
NG_009873.2:g.92303T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.1191T>C MANE Select ENSP00000262367.5:p.His397=
ENST00000262367.9:c.1191T>C ENSP00000262367.5:p.His397=
ENST00000382070.7:c.1191T>C ENSP00000371502.3:p.His397=
NM_001079846.1:c.1191T>C NP_001073315.1:p.His397=
NM_004380.2:c.1191T>C NP_004371.2:p.His397=
XM_005255124.3:c.1191T>C XP_005255181.1:p.His397=
XM_005255125.3:c.1191T>C XP_005255182.1:p.His397=
XM_006720848.2:c.1191T>C XP_006720911.1:p.His397=
XM_011522380.1:c.1137T>C XP_011520682.1:p.His379=
XM_011522381.1:c.438T>C XP_011520683.1:p.His146=
XM_011522382.1:c.1191T>C XP_011520684.1:p.His397=
XM_005255124.4:c.1191T>C XP_005255181.1:p.His397=
XM_005255125.4:c.1191T>C XP_005255182.1:p.His397=
XM_006720848.3:c.1191T>C XP_006720911.1:p.His397=
XM_011522381.2:c.438T>C XP_011520683.1:p.His146=
XM_011522382.3:c.1191T>C XP_011520684.1:p.His397=
XM_017022944.1:c.1191T>C XP_016878433.1:p.His397=
NM_004380.3:c.1191T>C MANE Select NP_004371.2:p.His397=