Canonical Allele Identifier: CA276971099

Gene: CREBBP

Linked Data

• dbSNP Id: rs745770513
• gnomAD v4: 16-3727942-G-A
• MyVariant Identifiers: chr16:g.3777943G>A (hg19) ; chr16:g.3727942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727942G>A , CM000678.2:g.3727942G>A	GRCh38
NC_000016.9:g.3777943G>A , CM000678.1:g.3777943G>A	GRCh37
NC_000016.8:g.3717944G>A	NCBI36
NG_009873.1:g.157179C>T
NG_009873.2:g.157772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7105C>T MANE Select	ENSP00000262367.5:p.Pro2369Ser
ENST00000262367.9:c.7105C>T	ENSP00000262367.5:p.Pro2369Ser
ENST00000382070.7:c.6991C>T	ENSP00000371502.3:p.Pro2331Ser
NM_001079846.1:c.6991C>T	NP_001073315.1:p.Pro2331Ser
NM_004380.2:c.7105C>T	NP_004371.2:p.Pro2369Ser
XM_005255124.3:c.7060C>T	XP_005255181.1:p.Pro2354Ser
XM_005255125.3:c.6688C>T	XP_005255182.1:p.Pro2230Ser
XM_006720848.2:c.6844C>T	XP_006720911.1:p.Pro2282Ser
XM_011522380.1:c.7051C>T	XP_011520682.1:p.Pro2351Ser
XM_011522381.1:c.6352C>T	XP_011520683.1:p.Pro2118Ser
XM_005255124.4:c.7060C>T	XP_005255181.1:p.Pro2354Ser
XM_005255125.4:c.6688C>T	XP_005255182.1:p.Pro2230Ser
XM_006720848.3:c.6844C>T	XP_006720911.1:p.Pro2282Ser
XM_011522381.2:c.6352C>T	XP_011520683.1:p.Pro2118Ser
XM_017022944.1:c.7099C>T	XP_016878433.1:p.Pro2367Ser
NM_004380.3:c.7105C>T MANE Select	NP_004371.2:p.Pro2369Ser