Canonical Allele Identifier: CA394554979

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307285
• gnomAD v4: 16-3729124-C-T
• MyVariant Identifiers: chr16:g.3779125C>T (hg19) ; chr16:g.3729124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729124C>T , CM000678.2:g.3729124C>T	GRCh38
NC_000016.9:g.3779125C>T , CM000678.1:g.3779125C>T	GRCh37
NC_000016.8:g.3719126C>T	NCBI36
NG_009873.1:g.155997G>A
NG_009873.2:g.156590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5923G>A MANE Select	ENSP00000262367.5:p.Val1975Met
ENST00000262367.9:c.5923G>A	ENSP00000262367.5:p.Val1975Met
ENST00000382070.7:c.5809G>A	ENSP00000371502.3:p.Val1937Met
NM_001079846.1:c.5809G>A	NP_001073315.1:p.Val1937Met
NM_004380.2:c.5923G>A	NP_004371.2:p.Val1975Met
XM_005255124.3:c.5878G>A	XP_005255181.1:p.Val1960Met
XM_005255125.3:c.5506G>A	XP_005255182.1:p.Val1836Met
XM_006720848.2:c.5662G>A	XP_006720911.1:p.Val1888Met
XM_011522380.1:c.5869G>A	XP_011520682.1:p.Val1957Met
XM_011522381.1:c.5170G>A	XP_011520683.1:p.Val1724Met
XM_005255124.4:c.5878G>A	XP_005255181.1:p.Val1960Met
XM_005255125.4:c.5506G>A	XP_005255182.1:p.Val1836Met
XM_006720848.3:c.5662G>A	XP_006720911.1:p.Val1888Met
XM_011522381.2:c.5170G>A	XP_011520683.1:p.Val1724Met
XM_017022944.1:c.5917G>A	XP_016878433.1:p.Val1973Met
NM_004380.3:c.5923G>A MANE Select	NP_004371.2:p.Val1975Met