Canonical Allele Identifier: CA276971151

Gene: CREBBP

Linked Data

• dbSNP Id: rs979662378
• gnomAD v2: 16-3778108-T-C
• gnomAD v4: 16-3728107-T-C
• MyVariant Identifiers: chr16:g.3778108T>C (hg19) ; chr16:g.3728107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728107T>C , CM000678.2:g.3728107T>C	GRCh38
NC_000016.9:g.3778108T>C , CM000678.1:g.3778108T>C	GRCh37
NC_000016.8:g.3718109T>C	NCBI36
NG_009873.1:g.157014A>G
NG_009873.2:g.157607A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6940A>G MANE Select	ENSP00000262367.5:p.Met2314Val
ENST00000262367.9:c.6940A>G	ENSP00000262367.5:p.Met2314Val
ENST00000382070.7:c.6826A>G	ENSP00000371502.3:p.Met2276Val
NM_001079846.1:c.6826A>G	NP_001073315.1:p.Met2276Val
NM_004380.2:c.6940A>G	NP_004371.2:p.Met2314Val
XM_005255124.3:c.6895A>G	XP_005255181.1:p.Met2299Val
XM_005255125.3:c.6523A>G	XP_005255182.1:p.Met2175Val
XM_006720848.2:c.6679A>G	XP_006720911.1:p.Met2227Val
XM_011522380.1:c.6886A>G	XP_011520682.1:p.Met2296Val
XM_011522381.1:c.6187A>G	XP_011520683.1:p.Met2063Val
XM_005255124.4:c.6895A>G	XP_005255181.1:p.Met2299Val
XM_005255125.4:c.6523A>G	XP_005255182.1:p.Met2175Val
XM_006720848.3:c.6679A>G	XP_006720911.1:p.Met2227Val
XM_011522381.2:c.6187A>G	XP_011520683.1:p.Met2063Val
XM_017022944.1:c.6934A>G	XP_016878433.1:p.Met2312Val
NM_004380.3:c.6940A>G MANE Select	NP_004371.2:p.Met2314Val