Canonical Allele Identifier: CA394550404

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051788735
• gnomAD v4: 16-3727884-G-A
• MyVariant Identifiers: chr16:g.3777885G>A (hg19) ; chr16:g.3727884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727884G>A , CM000678.2:g.3727884G>A	GRCh38
NC_000016.9:g.3777885G>A , CM000678.1:g.3777885G>A	GRCh37
NC_000016.8:g.3717886G>A	NCBI36
NG_009873.1:g.157237C>T
NG_009873.2:g.157830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7163C>T MANE Select	ENSP00000262367.5:p.Ala2388Val
ENST00000262367.9:c.7163C>T	ENSP00000262367.5:p.Ala2388Val
ENST00000382070.7:c.7049C>T	ENSP00000371502.3:p.Ala2350Val
NM_001079846.1:c.7049C>T	NP_001073315.1:p.Ala2350Val
NM_004380.2:c.7163C>T	NP_004371.2:p.Ala2388Val
XM_005255124.3:c.7118C>T	XP_005255181.1:p.Ala2373Val
XM_005255125.3:c.6746C>T	XP_005255182.1:p.Ala2249Val
XM_006720848.2:c.6902C>T	XP_006720911.1:p.Ala2301Val
XM_011522380.1:c.7109C>T	XP_011520682.1:p.Ala2370Val
XM_011522381.1:c.6410C>T	XP_011520683.1:p.Ala2137Val
XM_005255124.4:c.7118C>T	XP_005255181.1:p.Ala2373Val
XM_005255125.4:c.6746C>T	XP_005255182.1:p.Ala2249Val
XM_006720848.3:c.6902C>T	XP_006720911.1:p.Ala2301Val
XM_011522381.2:c.6410C>T	XP_011520683.1:p.Ala2137Val
XM_017022944.1:c.7157C>T	XP_016878433.1:p.Ala2386Val
NM_004380.3:c.7163C>T MANE Select	NP_004371.2:p.Ala2388Val