Canonical Allele Identifier: CA394551247

Gene: CREBBP

Linked Data

• dbSNP Id: rs1234402176
• gnomAD v2: 16-3778132-C-T
• gnomAD v4: 16-3728131-C-T
• MyVariant Identifiers: chr16:g.3778132C>T (hg19) ; chr16:g.3728131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728131C>T , CM000678.2:g.3728131C>T	GRCh38
NC_000016.9:g.3778132C>T , CM000678.1:g.3778132C>T	GRCh37
NC_000016.8:g.3718133C>T	NCBI36
NG_009873.1:g.156990G>A
NG_009873.2:g.157583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6916G>A MANE Select	ENSP00000262367.5:p.Gly2306Arg
ENST00000262367.9:c.6916G>A	ENSP00000262367.5:p.Gly2306Arg
ENST00000382070.7:c.6802G>A	ENSP00000371502.3:p.Gly2268Arg
NM_001079846.1:c.6802G>A	NP_001073315.1:p.Gly2268Arg
NM_004380.2:c.6916G>A	NP_004371.2:p.Gly2306Arg
XM_005255124.3:c.6871G>A	XP_005255181.1:p.Gly2291Arg
XM_005255125.3:c.6499G>A	XP_005255182.1:p.Gly2167Arg
XM_006720848.2:c.6655G>A	XP_006720911.1:p.Gly2219Arg
XM_011522380.1:c.6862G>A	XP_011520682.1:p.Gly2288Arg
XM_011522381.1:c.6163G>A	XP_011520683.1:p.Gly2055Arg
XM_005255124.4:c.6871G>A	XP_005255181.1:p.Gly2291Arg
XM_005255125.4:c.6499G>A	XP_005255182.1:p.Gly2167Arg
XM_006720848.3:c.6655G>A	XP_006720911.1:p.Gly2219Arg
XM_011522381.2:c.6163G>A	XP_011520683.1:p.Gly2055Arg
XM_017022944.1:c.6910G>A	XP_016878433.1:p.Gly2304Arg
NM_004380.3:c.6916G>A MANE Select	NP_004371.2:p.Gly2306Arg