Canonical Allele Identifier: CA7869131

Gene: CREBBP

Linked Data

• dbSNP Id: rs772410741
• ExAC: 16:3778673 G / T
• gnomAD v2: 16-3778673-G-T
• MyVariant Identifiers: chr16:g.3778673G>T (hg19) ; chr16:g.3728672G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728672G>T , CM000678.2:g.3728672G>T	GRCh38
NC_000016.9:g.3778673G>T , CM000678.1:g.3778673G>T	GRCh37
NC_000016.8:g.3718674G>T	NCBI36
NG_009873.1:g.156449C>A
NG_009873.2:g.157042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6375C>A MANE Select	ENSP00000262367.5:p.Pro2125=
ENST00000262367.9:c.6375C>A	ENSP00000262367.5:p.Pro2125=
ENST00000382070.7:c.6261C>A	ENSP00000371502.3:p.Pro2087=
NM_001079846.1:c.6261C>A	NP_001073315.1:p.Pro2087=
NM_004380.2:c.6375C>A	NP_004371.2:p.Pro2125=
XM_005255124.3:c.6330C>A	XP_005255181.1:p.Pro2110=
XM_005255125.3:c.5958C>A	XP_005255182.1:p.Pro1986=
XM_006720848.2:c.6114C>A	XP_006720911.1:p.Pro2038=
XM_011522380.1:c.6321C>A	XP_011520682.1:p.Pro2107=
XM_011522381.1:c.5622C>A	XP_011520683.1:p.Pro1874=
XM_005255124.4:c.6330C>A	XP_005255181.1:p.Pro2110=
XM_005255125.4:c.5958C>A	XP_005255182.1:p.Pro1986=
XM_006720848.3:c.6114C>A	XP_006720911.1:p.Pro2038=
XM_011522381.2:c.5622C>A	XP_011520683.1:p.Pro1874=
XM_017022944.1:c.6369C>A	XP_016878433.1:p.Pro2123=
NM_004380.3:c.6375C>A MANE Select	NP_004371.2:p.Pro2125=