Canonical Allele Identifier: CA7869239

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2710524
• ClinVar RCV Id: RCV003595097
• dbSNP Id: rs577591403
• ExAC: 16:3779209 G / A
• gnomAD v2: 16-3779209-G-A
• gnomAD v3: 16-3729208-G-A
• gnomAD v4: 16-3729208-G-A
• MyVariant Identifiers: chr16:g.3779209G>A (hg19) ; chr16:g.3729208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729208G>A , CM000678.2:g.3729208G>A	GRCh38
NC_000016.9:g.3779209G>A , CM000678.1:g.3779209G>A	GRCh37
NC_000016.8:g.3719210G>A	NCBI36
NG_009873.1:g.155913C>T
NG_009873.2:g.156506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5839C>T MANE Select	ENSP00000262367.5:p.Pro1947Ser
ENST00000262367.9:c.5839C>T	ENSP00000262367.5:p.Pro1947Ser
ENST00000382070.7:c.5725C>T	ENSP00000371502.3:p.Pro1909Ser
NM_001079846.1:c.5725C>T	NP_001073315.1:p.Pro1909Ser
NM_004380.2:c.5839C>T	NP_004371.2:p.Pro1947Ser
XM_005255124.3:c.5794C>T	XP_005255181.1:p.Pro1932Ser
XM_005255125.3:c.5422C>T	XP_005255182.1:p.Pro1808Ser
XM_006720848.2:c.5578C>T	XP_006720911.1:p.Pro1860Ser
XM_011522380.1:c.5785C>T	XP_011520682.1:p.Pro1929Ser
XM_011522381.1:c.5086C>T	XP_011520683.1:p.Pro1696Ser
XM_005255124.4:c.5794C>T	XP_005255181.1:p.Pro1932Ser
XM_005255125.4:c.5422C>T	XP_005255182.1:p.Pro1808Ser
XM_006720848.3:c.5578C>T	XP_006720911.1:p.Pro1860Ser
XM_011522381.2:c.5086C>T	XP_011520683.1:p.Pro1696Ser
XM_017022944.1:c.5833C>T	XP_016878433.1:p.Pro1945Ser
NM_004380.3:c.5839C>T MANE Select	NP_004371.2:p.Pro1947Ser