Canonical Allele Identifier: CA7869274

Gene: CREBBP

Linked Data

• dbSNP Id: rs775138594
• ExAC: 16:3779504 G / A
• gnomAD v2: 16-3779504-G-A
• gnomAD v3: 16-3729503-G-A
• gnomAD v4: 16-3729503-G-A
• MyVariant Identifiers: chr16:g.3779504G>A (hg19) ; chr16:g.3729503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729503G>A , CM000678.2:g.3729503G>A	GRCh38
NC_000016.9:g.3779504G>A , CM000678.1:g.3779504G>A	GRCh37
NC_000016.8:g.3719505G>A	NCBI36
NG_009873.1:g.155618C>T
NG_009873.2:g.156211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5544C>T MANE Select	ENSP00000262367.5:p.His1848=
ENST00000262367.9:c.5544C>T	ENSP00000262367.5:p.His1848=
ENST00000382070.7:c.5430C>T	ENSP00000371502.3:p.His1810=
NM_001079846.1:c.5430C>T	NP_001073315.1:p.His1810=
NM_004380.2:c.5544C>T	NP_004371.2:p.His1848=
XM_005255124.3:c.5499C>T	XP_005255181.1:p.His1833=
XM_005255125.3:c.5127C>T	XP_005255182.1:p.His1709=
XM_006720848.2:c.5283C>T	XP_006720911.1:p.His1761=
XM_011522380.1:c.5490C>T	XP_011520682.1:p.His1830=
XM_011522381.1:c.4791C>T	XP_011520683.1:p.His1597=
XM_005255124.4:c.5499C>T	XP_005255181.1:p.His1833=
XM_005255125.4:c.5127C>T	XP_005255182.1:p.His1709=
XM_006720848.3:c.5283C>T	XP_006720911.1:p.His1761=
XM_011522381.2:c.4791C>T	XP_011520683.1:p.His1597=
XM_017022944.1:c.5538C>T	XP_016878433.1:p.His1846=
NM_004380.3:c.5544C>T MANE Select	NP_004371.2:p.His1848=