Canonical Allele Identifier: CA493394141
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3779669T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729668T>A , CM000678.2:g.3729668T>A GRCh38
NC_000016.9:g.3779669T>A , CM000678.1:g.3779669T>A GRCh37
NC_000016.8:g.3719670T>A NCBI36
NG_009873.1:g.155453A>T
NG_009873.2:g.156046A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5379A>T MANE Select ENSP00000262367.5:p.Pro1793=
ENST00000262367.9:c.5379A>T ENSP00000262367.5:p.Pro1793=
ENST00000382070.7:c.5265A>T ENSP00000371502.3:p.Pro1755=
NM_001079846.1:c.5265A>T NP_001073315.1:p.Pro1755=
NM_004380.2:c.5379A>T NP_004371.2:p.Pro1793=
XM_005255124.3:c.5334A>T XP_005255181.1:p.Pro1778=
XM_005255125.3:c.4962A>T XP_005255182.1:p.Pro1654=
XM_006720848.2:c.5118A>T XP_006720911.1:p.Pro1706=
XM_011522380.1:c.5325A>T XP_011520682.1:p.Pro1775=
XM_011522381.1:c.4626A>T XP_011520683.1:p.Pro1542=
XM_005255124.4:c.5334A>T XP_005255181.1:p.Pro1778=
XM_005255125.4:c.4962A>T XP_005255182.1:p.Pro1654=
XM_006720848.3:c.5118A>T XP_006720911.1:p.Pro1706=
XM_011522381.2:c.4626A>T XP_011520683.1:p.Pro1542=
XM_017022944.1:c.5373A>T XP_016878433.1:p.Pro1791=
NM_004380.3:c.5379A>T MANE Select NP_004371.2:p.Pro1793=