Canonical Allele Identifier: CA7869158

Gene: CREBBP

Linked Data

• dbSNP Id: rs763895259
• ExAC: 16:3778835 C / T
• gnomAD v2: 16-3778835-C-T
• gnomAD v3: 16-3728834-C-T
• gnomAD v4: 16-3728834-C-T
• COSMIC: COSM2919907
• MyVariant Identifiers: chr16:g.3778835C>T (hg19) ; chr16:g.3728834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728834C>T , CM000678.2:g.3728834C>T	GRCh38
NC_000016.9:g.3778835C>T , CM000678.1:g.3778835C>T	GRCh37
NC_000016.8:g.3718836C>T	NCBI36
NG_009873.1:g.156287G>A
NG_009873.2:g.156880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6213G>A MANE Select	ENSP00000262367.5:p.Leu2071=
ENST00000262367.9:c.6213G>A	ENSP00000262367.5:p.Leu2071=
ENST00000382070.7:c.6099G>A	ENSP00000371502.3:p.Leu2033=
NM_001079846.1:c.6099G>A	NP_001073315.1:p.Leu2033=
NM_004380.2:c.6213G>A	NP_004371.2:p.Leu2071=
XM_005255124.3:c.6168G>A	XP_005255181.1:p.Leu2056=
XM_005255125.3:c.5796G>A	XP_005255182.1:p.Leu1932=
XM_006720848.2:c.5952G>A	XP_006720911.1:p.Leu1984=
XM_011522380.1:c.6159G>A	XP_011520682.1:p.Leu2053=
XM_011522381.1:c.5460G>A	XP_011520683.1:p.Leu1820=
XM_005255124.4:c.6168G>A	XP_005255181.1:p.Leu2056=
XM_005255125.4:c.5796G>A	XP_005255182.1:p.Leu1932=
XM_006720848.3:c.5952G>A	XP_006720911.1:p.Leu1984=
XM_011522381.2:c.5460G>A	XP_011520683.1:p.Leu1820=
XM_017022944.1:c.6207G>A	XP_016878433.1:p.Leu2069=
NM_004380.3:c.6213G>A MANE Select	NP_004371.2:p.Leu2071=