Canonical Allele Identifier: CA7869169

Gene: CREBBP

Linked Data

• dbSNP Id: rs528177486
• ExAC: 16:3778900 C / T
• gnomAD v2: 16-3778900-C-T
• gnomAD v3: 16-3728899-C-T
• gnomAD v4: 16-3728899-C-T
• MyVariant Identifiers: chr16:g.3778900C>T (hg19) ; chr16:g.3728899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728899C>T , CM000678.2:g.3728899C>T	GRCh38
NC_000016.9:g.3778900C>T , CM000678.1:g.3778900C>T	GRCh37
NC_000016.8:g.3718901C>T	NCBI36
NG_009873.1:g.156222G>A
NG_009873.2:g.156815G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6148G>A MANE Select	ENSP00000262367.5:p.Gly2050Arg
ENST00000262367.9:c.6148G>A	ENSP00000262367.5:p.Gly2050Arg
ENST00000382070.7:c.6034G>A	ENSP00000371502.3:p.Gly2012Arg
NM_001079846.1:c.6034G>A	NP_001073315.1:p.Gly2012Arg
NM_004380.2:c.6148G>A	NP_004371.2:p.Gly2050Arg
XM_005255124.3:c.6103G>A	XP_005255181.1:p.Gly2035Arg
XM_005255125.3:c.5731G>A	XP_005255182.1:p.Gly1911Arg
XM_006720848.2:c.5887G>A	XP_006720911.1:p.Gly1963Arg
XM_011522380.1:c.6094G>A	XP_011520682.1:p.Gly2032Arg
XM_011522381.1:c.5395G>A	XP_011520683.1:p.Gly1799Arg
XM_005255124.4:c.6103G>A	XP_005255181.1:p.Gly2035Arg
XM_005255125.4:c.5731G>A	XP_005255182.1:p.Gly1911Arg
XM_006720848.3:c.5887G>A	XP_006720911.1:p.Gly1963Arg
XM_011522381.2:c.5395G>A	XP_011520683.1:p.Gly1799Arg
XM_017022944.1:c.6142G>A	XP_016878433.1:p.Gly2048Arg
NM_004380.3:c.6148G>A MANE Select	NP_004371.2:p.Gly2050Arg