Canonical Allele Identifier: CA276971920

Gene: CREBBP

Linked Data

• dbSNP Id: rs868301787
• gnomAD v4: 16-3729154-C-A
• MyVariant Identifiers: chr16:g.3779155C>A (hg19) ; chr16:g.3729154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729154C>A , CM000678.2:g.3729154C>A	GRCh38
NC_000016.9:g.3779155C>A , CM000678.1:g.3779155C>A	GRCh37
NC_000016.8:g.3719156C>A	NCBI36
NG_009873.1:g.155967G>T
NG_009873.2:g.156560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5893G>T MANE Select	ENSP00000262367.5:p.Glu1965Ter
ENST00000262367.9:c.5893G>T	ENSP00000262367.5:p.Glu1965Ter
ENST00000382070.7:c.5779G>T	ENSP00000371502.3:p.Glu1927Ter
NM_001079846.1:c.5779G>T	NP_001073315.1:p.Glu1927Ter
NM_004380.2:c.5893G>T	NP_004371.2:p.Glu1965Ter
XM_005255124.3:c.5848G>T	XP_005255181.1:p.Glu1950Ter
XM_005255125.3:c.5476G>T	XP_005255182.1:p.Glu1826Ter
XM_006720848.2:c.5632G>T	XP_006720911.1:p.Glu1878Ter
XM_011522380.1:c.5839G>T	XP_011520682.1:p.Glu1947Ter
XM_011522381.1:c.5140G>T	XP_011520683.1:p.Glu1714Ter
XM_005255124.4:c.5848G>T	XP_005255181.1:p.Glu1950Ter
XM_005255125.4:c.5476G>T	XP_005255182.1:p.Glu1826Ter
XM_006720848.3:c.5632G>T	XP_006720911.1:p.Glu1878Ter
XM_011522381.2:c.5140G>T	XP_011520683.1:p.Glu1714Ter
XM_017022944.1:c.5887G>T	XP_016878433.1:p.Glu1963Ter
NM_004380.3:c.5893G>T MANE Select	NP_004371.2:p.Glu1965Ter