Canonical Allele Identifier: CA493393915
Gene: CREBBP HGNC NCBI

Linked Data

gnomAD v4: 16-3729209-T-A
MyVariant Identifiers: chr16:g.3779210T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729209T>A , CM000678.2:g.3729209T>A GRCh38
NC_000016.9:g.3779210T>A , CM000678.1:g.3779210T>A GRCh37
NC_000016.8:g.3719211T>A NCBI36
NG_009873.1:g.155912A>T
NG_009873.2:g.156505A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5838A>T MANE Select ENSP00000262367.5:p.Pro1946=
ENST00000262367.9:c.5838A>T ENSP00000262367.5:p.Pro1946=
ENST00000382070.7:c.5724A>T ENSP00000371502.3:p.Pro1908=
NM_001079846.1:c.5724A>T NP_001073315.1:p.Pro1908=
NM_004380.2:c.5838A>T NP_004371.2:p.Pro1946=
XM_005255124.3:c.5793A>T XP_005255181.1:p.Pro1931=
XM_005255125.3:c.5421A>T XP_005255182.1:p.Pro1807=
XM_006720848.2:c.5577A>T XP_006720911.1:p.Pro1859=
XM_011522380.1:c.5784A>T XP_011520682.1:p.Pro1928=
XM_011522381.1:c.5085A>T XP_011520683.1:p.Pro1695=
XM_005255124.4:c.5793A>T XP_005255181.1:p.Pro1931=
XM_005255125.4:c.5421A>T XP_005255182.1:p.Pro1807=
XM_006720848.3:c.5577A>T XP_006720911.1:p.Pro1859=
XM_011522381.2:c.5085A>T XP_011520683.1:p.Pro1695=
XM_017022944.1:c.5832A>T XP_016878433.1:p.Pro1944=
NM_004380.3:c.5838A>T MANE Select NP_004371.2:p.Pro1946=