Canonical Allele Identifier: CA394555602

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151308488
• gnomAD v4: 16-3729292-C-T
• MyVariant Identifiers: chr16:g.3779293C>T (hg19) ; chr16:g.3729292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729292C>T , CM000678.2:g.3729292C>T	GRCh38
NC_000016.9:g.3779293C>T , CM000678.1:g.3779293C>T	GRCh37
NC_000016.8:g.3719294C>T	NCBI36
NG_009873.1:g.155829G>A
NG_009873.2:g.156422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5755G>A MANE Select	ENSP00000262367.5:p.Ala1919Thr
ENST00000262367.9:c.5755G>A	ENSP00000262367.5:p.Ala1919Thr
ENST00000382070.7:c.5641G>A	ENSP00000371502.3:p.Ala1881Thr
NM_001079846.1:c.5641G>A	NP_001073315.1:p.Ala1881Thr
NM_004380.2:c.5755G>A	NP_004371.2:p.Ala1919Thr
XM_005255124.3:c.5710G>A	XP_005255181.1:p.Ala1904Thr
XM_005255125.3:c.5338G>A	XP_005255182.1:p.Ala1780Thr
XM_006720848.2:c.5494G>A	XP_006720911.1:p.Ala1832Thr
XM_011522380.1:c.5701G>A	XP_011520682.1:p.Ala1901Thr
XM_011522381.1:c.5002G>A	XP_011520683.1:p.Ala1668Thr
XM_005255124.4:c.5710G>A	XP_005255181.1:p.Ala1904Thr
XM_005255125.4:c.5338G>A	XP_005255182.1:p.Ala1780Thr
XM_006720848.3:c.5494G>A	XP_006720911.1:p.Ala1832Thr
XM_011522381.2:c.5002G>A	XP_011520683.1:p.Ala1668Thr
XM_017022944.1:c.5749G>A	XP_016878433.1:p.Ala1917Thr
NM_004380.3:c.5755G>A MANE Select	NP_004371.2:p.Ala1919Thr