Canonical Allele Identifier: CA394557174

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311685
• gnomAD v4: 16-3729723-C-T
• MyVariant Identifiers: chr16:g.3779724C>T (hg19) ; chr16:g.3729723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729723C>T , CM000678.2:g.3729723C>T	GRCh38
NC_000016.9:g.3779724C>T , CM000678.1:g.3779724C>T	GRCh37
NC_000016.8:g.3719725C>T	NCBI36
NG_009873.1:g.155398G>A
NG_009873.2:g.155991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5324G>A MANE Select	ENSP00000262367.5:p.Cys1775Tyr
ENST00000262367.9:c.5324G>A	ENSP00000262367.5:p.Cys1775Tyr
ENST00000382070.7:c.5210G>A	ENSP00000371502.3:p.Cys1737Tyr
NM_001079846.1:c.5210G>A	NP_001073315.1:p.Cys1737Tyr
NM_004380.2:c.5324G>A	NP_004371.2:p.Cys1775Tyr
XM_005255124.3:c.5279G>A	XP_005255181.1:p.Cys1760Tyr
XM_005255125.3:c.4907G>A	XP_005255182.1:p.Cys1636Tyr
XM_006720848.2:c.5063G>A	XP_006720911.1:p.Cys1688Tyr
XM_011522380.1:c.5270G>A	XP_011520682.1:p.Cys1757Tyr
XM_011522381.1:c.4571G>A	XP_011520683.1:p.Cys1524Tyr
XM_005255124.4:c.5279G>A	XP_005255181.1:p.Cys1760Tyr
XM_005255125.4:c.4907G>A	XP_005255182.1:p.Cys1636Tyr
XM_006720848.3:c.5063G>A	XP_006720911.1:p.Cys1688Tyr
XM_011522381.2:c.4571G>A	XP_011520683.1:p.Cys1524Tyr
XM_017022944.1:c.5318G>A	XP_016878433.1:p.Cys1773Tyr
NM_004380.3:c.5324G>A MANE Select	NP_004371.2:p.Cys1775Tyr