Canonical Allele Identifier: CA7869574

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1923917
• ClinVar RCV Id: RCV002609236
• dbSNP Id: rs369225460
• ExAC: 16:3789581 C / T
• gnomAD v2: 16-3789581-C-T
• gnomAD v3: 16-3739580-C-T
• gnomAD v4: 16-3739580-C-T
• MyVariant Identifiers: chr16:g.3789581C>T (hg19) ; chr16:g.3739580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739580C>T , CM000678.2:g.3739580C>T	GRCh38
NC_000016.9:g.3789581C>T , CM000678.1:g.3789581C>T	GRCh37
NC_000016.8:g.3729582C>T	NCBI36
NG_009873.1:g.145541G>A
NG_009873.2:g.146134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4278G>A MANE Select	ENSP00000262367.5:p.Thr1426=
ENST00000262367.9:c.4278G>A	ENSP00000262367.5:p.Thr1426=
ENST00000382070.7:c.4164G>A	ENSP00000371502.3:p.Thr1388=
ENST00000570939.2:c.2913G>A	ENSP00000461002.2:p.Thr971=
ENST00000573517.6:c.584G>A
ENST00000574740.1:n.215+819G>A
ENST00000576720.1:n.3215G>A
NM_001079846.1:c.4164G>A	NP_001073315.1:p.Thr1388=
NM_004380.2:c.4278G>A	NP_004371.2:p.Thr1426=
XM_005255124.3:c.4233G>A	XP_005255181.1:p.Thr1411=
XM_005255125.3:c.3861G>A	XP_005255182.1:p.Thr1287=
XM_006720848.2:c.4133+819G>A	XP_006720911.1:n.4133+819G>A
XM_011522380.1:c.4224G>A	XP_011520682.1:p.Thr1408=
XM_011522381.1:c.3525G>A	XP_011520683.1:p.Thr1175=
XM_005255124.4:c.4233G>A	XP_005255181.1:p.Thr1411=
XM_005255125.4:c.3861G>A	XP_005255182.1:p.Thr1287=
XM_006720848.3:c.4133+819G>A	XP_006720911.1:n.4133+819G>A
XM_011522381.2:c.3525G>A	XP_011520683.1:p.Thr1175=
XM_017022944.1:c.4272G>A	XP_016878433.1:p.Thr1424=
NM_004380.3:c.4278G>A MANE Select	NP_004371.2:p.Thr1426=