Canonical Allele Identifier: CA394553958

Gene: CREBBP

Linked Data

• dbSNP Id: rs1461030167
• gnomAD v3: 16-3728869-T-C
• gnomAD v4: 16-3728869-T-C
• MyVariant Identifiers: chr16:g.3778870T>C (hg19) ; chr16:g.3728869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728869T>C , CM000678.2:g.3728869T>C	GRCh38
NC_000016.9:g.3778870T>C , CM000678.1:g.3778870T>C	GRCh37
NC_000016.8:g.3718871T>C	NCBI36
NG_009873.1:g.156252A>G
NG_009873.2:g.156845A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6178A>G MANE Select	ENSP00000262367.5:p.Arg2060Gly
ENST00000262367.9:c.6178A>G	ENSP00000262367.5:p.Arg2060Gly
ENST00000382070.7:c.6064A>G	ENSP00000371502.3:p.Arg2022Gly
NM_001079846.1:c.6064A>G	NP_001073315.1:p.Arg2022Gly
NM_004380.2:c.6178A>G	NP_004371.2:p.Arg2060Gly
XM_005255124.3:c.6133A>G	XP_005255181.1:p.Arg2045Gly
XM_005255125.3:c.5761A>G	XP_005255182.1:p.Arg1921Gly
XM_006720848.2:c.5917A>G	XP_006720911.1:p.Arg1973Gly
XM_011522380.1:c.6124A>G	XP_011520682.1:p.Arg2042Gly
XM_011522381.1:c.5425A>G	XP_011520683.1:p.Arg1809Gly
XM_005255124.4:c.6133A>G	XP_005255181.1:p.Arg2045Gly
XM_005255125.4:c.5761A>G	XP_005255182.1:p.Arg1921Gly
XM_006720848.3:c.5917A>G	XP_006720911.1:p.Arg1973Gly
XM_011522381.2:c.5425A>G	XP_011520683.1:p.Arg1809Gly
XM_017022944.1:c.6172A>G	XP_016878433.1:p.Arg2058Gly
NM_004380.3:c.6178A>G MANE Select	NP_004371.2:p.Arg2060Gly