Canonical Allele Identifier: CA394554063

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728896-G-T
• MyVariant Identifiers: chr16:g.3778897G>T (hg19) ; chr16:g.3728896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728896G>T , CM000678.2:g.3728896G>T	GRCh38
NC_000016.9:g.3778897G>T , CM000678.1:g.3778897G>T	GRCh37
NC_000016.8:g.3718898G>T	NCBI36
NG_009873.1:g.156225C>A
NG_009873.2:g.156818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6151C>A MANE Select	ENSP00000262367.5:p.Pro2051Thr
ENST00000262367.9:c.6151C>A	ENSP00000262367.5:p.Pro2051Thr
ENST00000382070.7:c.6037C>A	ENSP00000371502.3:p.Pro2013Thr
NM_001079846.1:c.6037C>A	NP_001073315.1:p.Pro2013Thr
NM_004380.2:c.6151C>A	NP_004371.2:p.Pro2051Thr
XM_005255124.3:c.6106C>A	XP_005255181.1:p.Pro2036Thr
XM_005255125.3:c.5734C>A	XP_005255182.1:p.Pro1912Thr
XM_006720848.2:c.5890C>A	XP_006720911.1:p.Pro1964Thr
XM_011522380.1:c.6097C>A	XP_011520682.1:p.Pro2033Thr
XM_011522381.1:c.5398C>A	XP_011520683.1:p.Pro1800Thr
XM_005255124.4:c.6106C>A	XP_005255181.1:p.Pro2036Thr
XM_005255125.4:c.5734C>A	XP_005255182.1:p.Pro1912Thr
XM_006720848.3:c.5890C>A	XP_006720911.1:p.Pro1964Thr
XM_011522381.2:c.5398C>A	XP_011520683.1:p.Pro1800Thr
XM_017022944.1:c.6145C>A	XP_016878433.1:p.Pro2049Thr
NM_004380.3:c.6151C>A MANE Select	NP_004371.2:p.Pro2051Thr