Canonical Allele Identifier: CA394554726

Gene: CREBBP

Linked Data

• dbSNP Id: rs1371453440
• gnomAD v2: 16-3779065-T-C
• gnomAD v4: 16-3729064-T-C
• MyVariant Identifiers: chr16:g.3779065T>C (hg19) ; chr16:g.3729064T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729064T>C , CM000678.2:g.3729064T>C	GRCh38
NC_000016.9:g.3779065T>C , CM000678.1:g.3779065T>C	GRCh37
NC_000016.8:g.3719066T>C	NCBI36
NG_009873.1:g.156057A>G
NG_009873.2:g.156650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5983A>G MANE Select	ENSP00000262367.5:p.Met1995Val
ENST00000262367.9:c.5983A>G	ENSP00000262367.5:p.Met1995Val
ENST00000382070.7:c.5869A>G	ENSP00000371502.3:p.Met1957Val
NM_001079846.1:c.5869A>G	NP_001073315.1:p.Met1957Val
NM_004380.2:c.5983A>G	NP_004371.2:p.Met1995Val
XM_005255124.3:c.5938A>G	XP_005255181.1:p.Met1980Val
XM_005255125.3:c.5566A>G	XP_005255182.1:p.Met1856Val
XM_006720848.2:c.5722A>G	XP_006720911.1:p.Met1908Val
XM_011522380.1:c.5929A>G	XP_011520682.1:p.Met1977Val
XM_011522381.1:c.5230A>G	XP_011520683.1:p.Met1744Val
XM_005255124.4:c.5938A>G	XP_005255181.1:p.Met1980Val
XM_005255125.4:c.5566A>G	XP_005255182.1:p.Met1856Val
XM_006720848.3:c.5722A>G	XP_006720911.1:p.Met1908Val
XM_011522381.2:c.5230A>G	XP_011520683.1:p.Met1744Val
XM_017022944.1:c.5977A>G	XP_016878433.1:p.Met1993Val
NM_004380.3:c.5983A>G MANE Select	NP_004371.2:p.Met1995Val