Canonical Allele Identifier: CA493394349
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151312640
MyVariant Identifiers: chr16:g.3779855G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729854G>A , CM000678.2:g.3729854G>A GRCh38
NC_000016.9:g.3779855G>A , CM000678.1:g.3779855G>A GRCh37
NC_000016.8:g.3719856G>A NCBI36
NG_009873.1:g.155267C>T
NG_009873.2:g.155860C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.5193C>T MANE Select ENSP00000262367.5:p.Asn1731=
ENST00000262367.9:c.5193C>T ENSP00000262367.5:p.Asn1731=
ENST00000382070.7:c.5079C>T ENSP00000371502.3:p.Asn1693=
NM_001079846.1:c.5079C>T NP_001073315.1:p.Asn1693=
NM_004380.2:c.5193C>T NP_004371.2:p.Asn1731=
XM_005255124.3:c.5148C>T XP_005255181.1:p.Asn1716=
XM_005255125.3:c.4776C>T XP_005255182.1:p.Asn1592=
XM_006720848.2:c.4932C>T XP_006720911.1:p.Asn1644=
XM_011522380.1:c.5139C>T XP_011520682.1:p.Asn1713=
XM_011522381.1:c.4440C>T XP_011520683.1:p.Asn1480=
XM_005255124.4:c.5148C>T XP_005255181.1:p.Asn1716=
XM_005255125.4:c.4776C>T XP_005255182.1:p.Asn1592=
XM_006720848.3:c.4932C>T XP_006720911.1:p.Asn1644=
XM_011522381.2:c.4440C>T XP_011520683.1:p.Asn1480=
XM_017022944.1:c.5187C>T XP_016878433.1:p.Asn1729=
NM_004380.3:c.5193C>T MANE Select NP_004371.2:p.Asn1731=