Canonical Allele Identifier: CA493277624
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3860685G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3810684G>T , CM000678.2:g.3810684G>T GRCh38
NC_000016.9:g.3860685G>T , CM000678.1:g.3860685G>T GRCh37
NC_000016.8:g.3800686G>T NCBI36
NG_009873.1:g.74437C>A
NG_009873.2:g.75030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.894C>A MANE Select ENSP00000262367.5:p.Ala298=
ENST00000262367.9:c.894C>A ENSP00000262367.5:p.Ala298=
ENST00000382070.7:c.894C>A ENSP00000371502.3:p.Ala298=
NM_001079846.1:c.894C>A NP_001073315.1:p.Ala298=
NM_004380.2:c.894C>A NP_004371.2:p.Ala298=
XM_005255124.3:c.894C>A XP_005255181.1:p.Ala298=
XM_005255125.3:c.894C>A XP_005255182.1:p.Ala298=
XM_006720848.2:c.894C>A XP_006720911.1:p.Ala298=
XM_011522380.1:c.840C>A XP_011520682.1:p.Ala280=
XM_011522381.1:c.141C>A XP_011520683.1:p.Ala47=
XM_011522382.1:c.894C>A XP_011520684.1:p.Ala298=
XM_005255124.4:c.894C>A XP_005255181.1:p.Ala298=
XM_005255125.4:c.894C>A XP_005255182.1:p.Ala298=
XM_006720848.3:c.894C>A XP_006720911.1:p.Ala298=
XM_011522381.2:c.141C>A XP_011520683.1:p.Ala47=
XM_011522382.3:c.894C>A XP_011520684.1:p.Ala298=
XM_017022944.1:c.894C>A XP_016878433.1:p.Ala298=
NM_004380.3:c.894C>A MANE Select NP_004371.2:p.Ala298=