Canonical Allele Identifier: CA7869167

Gene: CREBBP

Linked Data

• dbSNP Id: rs781732518
• ExAC: 16:3778891 T / C
• gnomAD v2: 16-3778891-T-C
• gnomAD v4: 16-3728890-T-C
• MyVariant Identifiers: chr16:g.3778891T>C (hg19) ; chr16:g.3728890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728890T>C , CM000678.2:g.3728890T>C	GRCh38
NC_000016.9:g.3778891T>C , CM000678.1:g.3778891T>C	GRCh37
NC_000016.8:g.3718892T>C	NCBI36
NG_009873.1:g.156231A>G
NG_009873.2:g.156824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6157A>G MANE Select	ENSP00000262367.5:p.Met2053Val
ENST00000262367.9:c.6157A>G	ENSP00000262367.5:p.Met2053Val
ENST00000382070.7:c.6043A>G	ENSP00000371502.3:p.Met2015Val
NM_001079846.1:c.6043A>G	NP_001073315.1:p.Met2015Val
NM_004380.2:c.6157A>G	NP_004371.2:p.Met2053Val
XM_005255124.3:c.6112A>G	XP_005255181.1:p.Met2038Val
XM_005255125.3:c.5740A>G	XP_005255182.1:p.Met1914Val
XM_006720848.2:c.5896A>G	XP_006720911.1:p.Met1966Val
XM_011522380.1:c.6103A>G	XP_011520682.1:p.Met2035Val
XM_011522381.1:c.5404A>G	XP_011520683.1:p.Met1802Val
XM_005255124.4:c.6112A>G	XP_005255181.1:p.Met2038Val
XM_005255125.4:c.5740A>G	XP_005255182.1:p.Met1914Val
XM_006720848.3:c.5896A>G	XP_006720911.1:p.Met1966Val
XM_011522381.2:c.5404A>G	XP_011520683.1:p.Met1802Val
XM_017022944.1:c.6151A>G	XP_016878433.1:p.Met2051Val
NM_004380.3:c.6157A>G MANE Select	NP_004371.2:p.Met2053Val