Canonical Allele Identifier: CA394551159

Gene: CREBBP

Linked Data

• dbSNP Id: rs1798875128
• gnomAD v3: 16-3728110-G-T
• gnomAD v4: 16-3728110-G-T
• MyVariant Identifiers: chr16:g.3778111G>T (hg19) ; chr16:g.3728110G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728110G>T , CM000678.2:g.3728110G>T	GRCh38
NC_000016.9:g.3778111G>T , CM000678.1:g.3778111G>T	GRCh37
NC_000016.8:g.3718112G>T	NCBI36
NG_009873.1:g.157011C>A
NG_009873.2:g.157604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6937C>A MANE Select	ENSP00000262367.5:p.Pro2313Thr
ENST00000262367.9:c.6937C>A	ENSP00000262367.5:p.Pro2313Thr
ENST00000382070.7:c.6823C>A	ENSP00000371502.3:p.Pro2275Thr
NM_001079846.1:c.6823C>A	NP_001073315.1:p.Pro2275Thr
NM_004380.2:c.6937C>A	NP_004371.2:p.Pro2313Thr
XM_005255124.3:c.6892C>A	XP_005255181.1:p.Pro2298Thr
XM_005255125.3:c.6520C>A	XP_005255182.1:p.Pro2174Thr
XM_006720848.2:c.6676C>A	XP_006720911.1:p.Pro2226Thr
XM_011522380.1:c.6883C>A	XP_011520682.1:p.Pro2295Thr
XM_011522381.1:c.6184C>A	XP_011520683.1:p.Pro2062Thr
XM_005255124.4:c.6892C>A	XP_005255181.1:p.Pro2298Thr
XM_005255125.4:c.6520C>A	XP_005255182.1:p.Pro2174Thr
XM_006720848.3:c.6676C>A	XP_006720911.1:p.Pro2226Thr
XM_011522381.2:c.6184C>A	XP_011520683.1:p.Pro2062Thr
XM_017022944.1:c.6931C>A	XP_016878433.1:p.Pro2311Thr
NM_004380.3:c.6937C>A MANE Select	NP_004371.2:p.Pro2313Thr