Canonical Allele Identifier: CA7869163

Gene: CREBBP

Linked Data

• dbSNP Id: rs758905484
• ExAC: 16:3778858 G / T
• gnomAD v2: 16-3778858-G-T
• MyVariant Identifiers: chr16:g.3778858G>T (hg19) ; chr16:g.3728857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728857G>T , CM000678.2:g.3728857G>T	GRCh38
NC_000016.9:g.3778858G>T , CM000678.1:g.3778858G>T	GRCh37
NC_000016.8:g.3718859G>T	NCBI36
NG_009873.1:g.156264C>A
NG_009873.2:g.156857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6190C>A MANE Select	ENSP00000262367.5:p.Pro2064Thr
ENST00000262367.9:c.6190C>A	ENSP00000262367.5:p.Pro2064Thr
ENST00000382070.7:c.6076C>A	ENSP00000371502.3:p.Pro2026Thr
NM_001079846.1:c.6076C>A	NP_001073315.1:p.Pro2026Thr
NM_004380.2:c.6190C>A	NP_004371.2:p.Pro2064Thr
XM_005255124.3:c.6145C>A	XP_005255181.1:p.Pro2049Thr
XM_005255125.3:c.5773C>A	XP_005255182.1:p.Pro1925Thr
XM_006720848.2:c.5929C>A	XP_006720911.1:p.Pro1977Thr
XM_011522380.1:c.6136C>A	XP_011520682.1:p.Pro2046Thr
XM_011522381.1:c.5437C>A	XP_011520683.1:p.Pro1813Thr
XM_005255124.4:c.6145C>A	XP_005255181.1:p.Pro2049Thr
XM_005255125.4:c.5773C>A	XP_005255182.1:p.Pro1925Thr
XM_006720848.3:c.5929C>A	XP_006720911.1:p.Pro1977Thr
XM_011522381.2:c.5437C>A	XP_011520683.1:p.Pro1813Thr
XM_017022944.1:c.6184C>A	XP_016878433.1:p.Pro2062Thr
NM_004380.3:c.6190C>A MANE Select	NP_004371.2:p.Pro2064Thr