Canonical Allele Identifier: CA394554631

Gene: CREBBP

Linked Data

• dbSNP Id: rs1282498604
• gnomAD v4: 16-3729040-G-T
• MyVariant Identifiers: chr16:g.3779041G>T (hg19) ; chr16:g.3729040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729040G>T , CM000678.2:g.3729040G>T	GRCh38
NC_000016.9:g.3779041G>T , CM000678.1:g.3779041G>T	GRCh37
NC_000016.8:g.3719042G>T	NCBI36
NG_009873.1:g.156081C>A
NG_009873.2:g.156674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6007C>A MANE Select	ENSP00000262367.5:p.Pro2003Thr
ENST00000262367.9:c.6007C>A	ENSP00000262367.5:p.Pro2003Thr
ENST00000382070.7:c.5893C>A	ENSP00000371502.3:p.Pro1965Thr
NM_001079846.1:c.5893C>A	NP_001073315.1:p.Pro1965Thr
NM_004380.2:c.6007C>A	NP_004371.2:p.Pro2003Thr
XM_005255124.3:c.5962C>A	XP_005255181.1:p.Pro1988Thr
XM_005255125.3:c.5590C>A	XP_005255182.1:p.Pro1864Thr
XM_006720848.2:c.5746C>A	XP_006720911.1:p.Pro1916Thr
XM_011522380.1:c.5953C>A	XP_011520682.1:p.Pro1985Thr
XM_011522381.1:c.5254C>A	XP_011520683.1:p.Pro1752Thr
XM_005255124.4:c.5962C>A	XP_005255181.1:p.Pro1988Thr
XM_005255125.4:c.5590C>A	XP_005255182.1:p.Pro1864Thr
XM_006720848.3:c.5746C>A	XP_006720911.1:p.Pro1916Thr
XM_011522381.2:c.5254C>A	XP_011520683.1:p.Pro1752Thr
XM_017022944.1:c.6001C>A	XP_016878433.1:p.Pro2001Thr
NM_004380.3:c.6007C>A MANE Select	NP_004371.2:p.Pro2003Thr