Canonical Allele Identifier: CA243763

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 196697
• ClinVar RCV Id: RCV000177557
• dbSNP Id: rs760307939
• ExAC: 16:3779531 G / A
• gnomAD v2: 16-3779531-G-A
• gnomAD v3: 16-3729530-G-A
• gnomAD v4: 16-3729530-G-A
• MyVariant Identifiers: chr16:g.3779531G>A (hg19) ; chr16:g.3729530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729530G>A , CM000678.2:g.3729530G>A	GRCh38
NC_000016.9:g.3779531G>A , CM000678.1:g.3779531G>A	GRCh37
NC_000016.8:g.3719532G>A	NCBI36
NG_009873.1:g.155591C>T
NG_009873.2:g.156184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5517C>T MANE Select	ENSP00000262367.5:p.Pro1839=
ENST00000262367.9:c.5517C>T	ENSP00000262367.5:p.Pro1839=
ENST00000382070.7:c.5403C>T	ENSP00000371502.3:p.Pro1801=
NM_001079846.1:c.5403C>T	NP_001073315.1:p.Pro1801=
NM_004380.2:c.5517C>T	NP_004371.2:p.Pro1839=
XM_005255124.3:c.5472C>T	XP_005255181.1:p.Pro1824=
XM_005255125.3:c.5100C>T	XP_005255182.1:p.Pro1700=
XM_006720848.2:c.5256C>T	XP_006720911.1:p.Pro1752=
XM_011522380.1:c.5463C>T	XP_011520682.1:p.Pro1821=
XM_011522381.1:c.4764C>T	XP_011520683.1:p.Pro1588=
XM_005255124.4:c.5472C>T	XP_005255181.1:p.Pro1824=
XM_005255125.4:c.5100C>T	XP_005255182.1:p.Pro1700=
XM_006720848.3:c.5256C>T	XP_006720911.1:p.Pro1752=
XM_011522381.2:c.4764C>T	XP_011520683.1:p.Pro1588=
XM_017022944.1:c.5511C>T	XP_016878433.1:p.Pro1837=
NM_004380.3:c.5517C>T MANE Select	NP_004371.2:p.Pro1839=