Canonical Allele Identifier: CA493279593

Gene: CREBBP

Linked Data

• dbSNP Id: rs1225198173
• gnomAD v4: 16-3736785-A-G
• MyVariant Identifiers: chr16:g.3786786A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736785A>G , CM000678.2:g.3736785A>G	GRCh38
NC_000016.9:g.3786786A>G , CM000678.1:g.3786786A>G	GRCh37
NC_000016.8:g.3726787A>G	NCBI36
NG_009873.1:g.148336T>C
NG_009873.2:g.148929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4425T>C MANE Select	ENSP00000262367.5:p.Pro1475=
ENST00000262367.9:c.4425T>C	ENSP00000262367.5:p.Pro1475=
ENST00000382070.7:c.4311T>C	ENSP00000371502.3:p.Pro1437=
ENST00000570939.2:c.3060T>C	ENSP00000461002.2:p.Pro1020=
ENST00000571763.5:n.215T>C
ENST00000574740.1:n.246T>C
ENST00000576720.1:n.3248T>C
NM_001079846.1:c.4311T>C	NP_001073315.1:p.Pro1437=
NM_004380.2:c.4425T>C	NP_004371.2:p.Pro1475=
XM_005255124.3:c.4380T>C	XP_005255181.1:p.Pro1460=
XM_005255125.3:c.4008T>C	XP_005255182.1:p.Pro1336=
XM_006720848.2:c.4164T>C	XP_006720911.1:p.Pro1388=
XM_011522380.1:c.4371T>C	XP_011520682.1:p.Pro1457=
XM_011522381.1:c.3672T>C	XP_011520683.1:p.Pro1224=
XM_005255124.4:c.4380T>C	XP_005255181.1:p.Pro1460=
XM_005255125.4:c.4008T>C	XP_005255182.1:p.Pro1336=
XM_006720848.3:c.4164T>C	XP_006720911.1:p.Pro1388=
XM_011522381.2:c.3672T>C	XP_011520683.1:p.Pro1224=
XM_017022944.1:c.4419T>C	XP_016878433.1:p.Pro1473=
NM_004380.3:c.4425T>C MANE Select	NP_004371.2:p.Pro1475=