Canonical Allele Identifier: CA394554619

Gene: CREBBP

Linked Data

• dbSNP Id: rs1202400845
• gnomAD v2: 16-3779040-G-A
• gnomAD v3: 16-3729039-G-A
• gnomAD v4: 16-3729039-G-A
• MyVariant Identifiers: chr16:g.3779040G>A (hg19) ; chr16:g.3729039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729039G>A , CM000678.2:g.3729039G>A	GRCh38
NC_000016.9:g.3779040G>A , CM000678.1:g.3779040G>A	GRCh37
NC_000016.8:g.3719041G>A	NCBI36
NG_009873.1:g.156082C>T
NG_009873.2:g.156675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6008C>T MANE Select	ENSP00000262367.5:p.Pro2003Leu
ENST00000262367.9:c.6008C>T	ENSP00000262367.5:p.Pro2003Leu
ENST00000382070.7:c.5894C>T	ENSP00000371502.3:p.Pro1965Leu
NM_001079846.1:c.5894C>T	NP_001073315.1:p.Pro1965Leu
NM_004380.2:c.6008C>T	NP_004371.2:p.Pro2003Leu
XM_005255124.3:c.5963C>T	XP_005255181.1:p.Pro1988Leu
XM_005255125.3:c.5591C>T	XP_005255182.1:p.Pro1864Leu
XM_006720848.2:c.5747C>T	XP_006720911.1:p.Pro1916Leu
XM_011522380.1:c.5954C>T	XP_011520682.1:p.Pro1985Leu
XM_011522381.1:c.5255C>T	XP_011520683.1:p.Pro1752Leu
XM_005255124.4:c.5963C>T	XP_005255181.1:p.Pro1988Leu
XM_005255125.4:c.5591C>T	XP_005255182.1:p.Pro1864Leu
XM_006720848.3:c.5747C>T	XP_006720911.1:p.Pro1916Leu
XM_011522381.2:c.5255C>T	XP_011520683.1:p.Pro1752Leu
XM_017022944.1:c.6002C>T	XP_016878433.1:p.Pro2001Leu
NM_004380.3:c.6008C>T MANE Select	NP_004371.2:p.Pro2003Leu