Canonical Allele Identifier: CA493393644
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151304914
MyVariant Identifiers: chr16:g.3778754T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728753T>A , CM000678.2:g.3728753T>A GRCh38
NC_000016.9:g.3778754T>A , CM000678.1:g.3778754T>A GRCh37
NC_000016.8:g.3718755T>A NCBI36
NG_009873.1:g.156368A>T
NG_009873.2:g.156961A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6294A>T MANE Select ENSP00000262367.5:p.Ala2098=
ENST00000262367.9:c.6294A>T ENSP00000262367.5:p.Ala2098=
ENST00000382070.7:c.6180A>T ENSP00000371502.3:p.Ala2060=
NM_001079846.1:c.6180A>T NP_001073315.1:p.Ala2060=
NM_004380.2:c.6294A>T NP_004371.2:p.Ala2098=
XM_005255124.3:c.6249A>T XP_005255181.1:p.Ala2083=
XM_005255125.3:c.5877A>T XP_005255182.1:p.Ala1959=
XM_006720848.2:c.6033A>T XP_006720911.1:p.Ala2011=
XM_011522380.1:c.6240A>T XP_011520682.1:p.Ala2080=
XM_011522381.1:c.5541A>T XP_011520683.1:p.Ala1847=
XM_005255124.4:c.6249A>T XP_005255181.1:p.Ala2083=
XM_005255125.4:c.5877A>T XP_005255182.1:p.Ala1959=
XM_006720848.3:c.6033A>T XP_006720911.1:p.Ala2011=
XM_011522381.2:c.5541A>T XP_011520683.1:p.Ala1847=
XM_017022944.1:c.6288A>T XP_016878433.1:p.Ala2096=
NM_004380.3:c.6294A>T MANE Select NP_004371.2:p.Ala2098=