Canonical Allele Identifier: CA394555085

Gene: CREBBP

Linked Data

• dbSNP Id: rs370565083
• MyVariant Identifiers: chr16:g.3779162G>C (hg19) ; chr16:g.3729161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729161G>C , CM000678.2:g.3729161G>C	GRCh38
NC_000016.9:g.3779162G>C , CM000678.1:g.3779162G>C	GRCh37
NC_000016.8:g.3719163G>C	NCBI36
NG_009873.1:g.155960C>G
NG_009873.2:g.156553C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5886C>G MANE Select	ENSP00000262367.5:p.Ile1962Met
ENST00000262367.9:c.5886C>G	ENSP00000262367.5:p.Ile1962Met
ENST00000382070.7:c.5772C>G	ENSP00000371502.3:p.Ile1924Met
NM_001079846.1:c.5772C>G	NP_001073315.1:p.Ile1924Met
NM_004380.2:c.5886C>G	NP_004371.2:p.Ile1962Met
XM_005255124.3:c.5841C>G	XP_005255181.1:p.Ile1947Met
XM_005255125.3:c.5469C>G	XP_005255182.1:p.Ile1823Met
XM_006720848.2:c.5625C>G	XP_006720911.1:p.Ile1875Met
XM_011522380.1:c.5832C>G	XP_011520682.1:p.Ile1944Met
XM_011522381.1:c.5133C>G	XP_011520683.1:p.Ile1711Met
XM_005255124.4:c.5841C>G	XP_005255181.1:p.Ile1947Met
XM_005255125.4:c.5469C>G	XP_005255182.1:p.Ile1823Met
XM_006720848.3:c.5625C>G	XP_006720911.1:p.Ile1875Met
XM_011522381.2:c.5133C>G	XP_011520683.1:p.Ile1711Met
XM_017022944.1:c.5880C>G	XP_016878433.1:p.Ile1960Met
NM_004380.3:c.5886C>G MANE Select	NP_004371.2:p.Ile1962Met