Canonical Allele Identifier: CA394565292

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2683988
• ClinVar RCV Id: RCV003484589 ; RCV003779222
• gnomAD v4: 16-3740442-T-C
• MyVariant Identifiers: chr16:g.3790443T>C (hg19) ; chr16:g.3740442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740442T>C , CM000678.2:g.3740442T>C	GRCh38
NC_000016.9:g.3790443T>C , CM000678.1:g.3790443T>C	GRCh37
NC_000016.8:g.3730444T>C	NCBI36
NG_009873.1:g.144679A>G
NG_009873.2:g.145272A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4090A>G MANE Select	ENSP00000262367.5:p.Ser1364Gly
ENST00000262367.9:c.4090A>G	ENSP00000262367.5:p.Ser1364Gly
ENST00000382070.7:c.3976A>G	ENSP00000371502.3:p.Ser1326Gly
ENST00000570939.2:c.2725A>G	ENSP00000461002.2:p.Ser909Gly
ENST00000573517.6:c.396A>G
ENST00000574740.1:n.172A>G
ENST00000576720.1:n.3027A>G
NM_001079846.1:c.3976A>G	NP_001073315.1:p.Ser1326Gly
NM_004380.2:c.4090A>G	NP_004371.2:p.Ser1364Gly
XM_005255124.3:c.4045A>G	XP_005255181.1:p.Ser1349Gly
XM_005255125.3:c.3673A>G	XP_005255182.1:p.Ser1225Gly
XM_006720848.2:c.4090A>G	XP_006720911.1:p.Ser1364Gly
XM_011522380.1:c.4036A>G	XP_011520682.1:p.Ser1346Gly
XM_011522381.1:c.3337A>G	XP_011520683.1:p.Ser1113Gly
XM_005255124.4:c.4045A>G	XP_005255181.1:p.Ser1349Gly
XM_005255125.4:c.3673A>G	XP_005255182.1:p.Ser1225Gly
XM_006720848.3:c.4090A>G	XP_006720911.1:p.Ser1364Gly
XM_011522381.2:c.3337A>G	XP_011520683.1:p.Ser1113Gly
XM_017022944.1:c.4084A>G	XP_016878433.1:p.Ser1362Gly
NM_004380.3:c.4090A>G MANE Select	NP_004371.2:p.Ser1364Gly