Canonical Allele Identifier: CA394554067

Gene: CREBBP

Linked Data

• dbSNP Id: rs1417258350
• gnomAD v2: 16-3778899-C-T
• MyVariant Identifiers: chr16:g.3778899C>T (hg19) ; chr16:g.3728898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728898C>T , CM000678.2:g.3728898C>T	GRCh38
NC_000016.9:g.3778899C>T , CM000678.1:g.3778899C>T	GRCh37
NC_000016.8:g.3718900C>T	NCBI36
NG_009873.1:g.156223G>A
NG_009873.2:g.156816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6149G>A MANE Select	ENSP00000262367.5:p.Gly2050Glu
ENST00000262367.9:c.6149G>A	ENSP00000262367.5:p.Gly2050Glu
ENST00000382070.7:c.6035G>A	ENSP00000371502.3:p.Gly2012Glu
NM_001079846.1:c.6035G>A	NP_001073315.1:p.Gly2012Glu
NM_004380.2:c.6149G>A	NP_004371.2:p.Gly2050Glu
XM_005255124.3:c.6104G>A	XP_005255181.1:p.Gly2035Glu
XM_005255125.3:c.5732G>A	XP_005255182.1:p.Gly1911Glu
XM_006720848.2:c.5888G>A	XP_006720911.1:p.Gly1963Glu
XM_011522380.1:c.6095G>A	XP_011520682.1:p.Gly2032Glu
XM_011522381.1:c.5396G>A	XP_011520683.1:p.Gly1799Glu
XM_005255124.4:c.6104G>A	XP_005255181.1:p.Gly2035Glu
XM_005255125.4:c.5732G>A	XP_005255182.1:p.Gly1911Glu
XM_006720848.3:c.5888G>A	XP_006720911.1:p.Gly1963Glu
XM_011522381.2:c.5396G>A	XP_011520683.1:p.Gly1799Glu
XM_017022944.1:c.6143G>A	XP_016878433.1:p.Gly2048Glu
NM_004380.3:c.6149G>A MANE Select	NP_004371.2:p.Gly2050Glu