Canonical Allele Identifier: CA493285392
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3808906T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3758905T>G , CM000678.2:g.3758905T>G GRCh38
NC_000016.9:g.3808906T>G , CM000678.1:g.3808906T>G GRCh37
NC_000016.8:g.3748907T>G NCBI36
NG_009873.1:g.126216A>C
NG_009873.2:g.126809A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3318A>C MANE Select ENSP00000262367.5:p.Pro1106=
ENST00000262367.9:c.3318A>C ENSP00000262367.5:p.Pro1106=
ENST00000382070.7:c.3204A>C ENSP00000371502.3:p.Pro1068=
ENST00000570939.2:c.1923A>C ENSP00000461002.2:p.Pro641=
NM_001079846.1:c.3204A>C NP_001073315.1:p.Pro1068=
NM_004380.2:c.3318A>C NP_004371.2:p.Pro1106=
XM_005255124.3:c.3273A>C XP_005255181.1:p.Pro1091=
XM_005255125.3:c.2901A>C XP_005255182.1:p.Pro967=
XM_006720848.2:c.3318A>C XP_006720911.1:p.Pro1106=
XM_011522380.1:c.3264A>C XP_011520682.1:p.Pro1088=
XM_011522381.1:c.2565A>C XP_011520683.1:p.Pro855=
XM_011522382.1:c.3318A>C XP_011520684.1:p.Pro1106=
XM_005255124.4:c.3273A>C XP_005255181.1:p.Pro1091=
XM_005255125.4:c.2901A>C XP_005255182.1:p.Pro967=
XM_006720848.3:c.3318A>C XP_006720911.1:p.Pro1106=
XM_011522381.2:c.2565A>C XP_011520683.1:p.Pro855=
XM_011522382.3:c.3318A>C XP_011520684.1:p.Pro1106=
XM_017022944.1:c.3312A>C XP_016878433.1:p.Pro1104=
NM_004380.3:c.3318A>C MANE Select NP_004371.2:p.Pro1106=