Canonical Allele Identifier: CA7869280

Gene: CREBBP

Linked Data

• dbSNP Id: rs779719747
• ExAC: 16:3779607 C / G
• gnomAD v2: 16-3779607-C-G
• gnomAD v4: 16-3729606-C-G
• MyVariant Identifiers: chr16:g.3779607C>G (hg19) ; chr16:g.3729606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729606C>G , CM000678.2:g.3729606C>G	GRCh38
NC_000016.9:g.3779607C>G , CM000678.1:g.3779607C>G	GRCh37
NC_000016.8:g.3719608C>G	NCBI36
NG_009873.1:g.155515G>C
NG_009873.2:g.156108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5441G>C MANE Select	ENSP00000262367.5:p.Gly1814Ala
ENST00000262367.9:c.5441G>C	ENSP00000262367.5:p.Gly1814Ala
ENST00000382070.7:c.5327G>C	ENSP00000371502.3:p.Gly1776Ala
NM_001079846.1:c.5327G>C	NP_001073315.1:p.Gly1776Ala
NM_004380.2:c.5441G>C	NP_004371.2:p.Gly1814Ala
XM_005255124.3:c.5396G>C	XP_005255181.1:p.Gly1799Ala
XM_005255125.3:c.5024G>C	XP_005255182.1:p.Gly1675Ala
XM_006720848.2:c.5180G>C	XP_006720911.1:p.Gly1727Ala
XM_011522380.1:c.5387G>C	XP_011520682.1:p.Gly1796Ala
XM_011522381.1:c.4688G>C	XP_011520683.1:p.Gly1563Ala
XM_005255124.4:c.5396G>C	XP_005255181.1:p.Gly1799Ala
XM_005255125.4:c.5024G>C	XP_005255182.1:p.Gly1675Ala
XM_006720848.3:c.5180G>C	XP_006720911.1:p.Gly1727Ala
XM_011522381.2:c.4688G>C	XP_011520683.1:p.Gly1563Ala
XM_017022944.1:c.5435G>C	XP_016878433.1:p.Gly1812Ala
NM_004380.3:c.5441G>C MANE Select	NP_004371.2:p.Gly1814Ala