Canonical Allele Identifier: CA394563345

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329183
• COSMIC: COSM970562
• MyVariant Identifiers: chr16:g.3786666G>C (hg19) ; chr16:g.3736665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736665G>C , CM000678.2:g.3736665G>C	GRCh38
NC_000016.9:g.3786666G>C , CM000678.1:g.3786666G>C	GRCh37
NC_000016.8:g.3726667G>C	NCBI36
NG_009873.1:g.148456C>G
NG_009873.2:g.149049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4545C>G MANE Select	ENSP00000262367.5:p.Ile1515Met
ENST00000262367.9:c.4545C>G	ENSP00000262367.5:p.Ile1515Met
ENST00000382070.7:c.4431C>G	ENSP00000371502.3:p.Ile1477Met
ENST00000570939.2:c.3180C>G	ENSP00000461002.2:p.Ile1060Met
ENST00000571763.5:n.335C>G
ENST00000574740.1:n.366C>G
ENST00000576720.1:n.3368C>G
NM_001079846.1:c.4431C>G	NP_001073315.1:p.Ile1477Met
NM_004380.2:c.4545C>G	NP_004371.2:p.Ile1515Met
XM_005255124.3:c.4500C>G	XP_005255181.1:p.Ile1500Met
XM_005255125.3:c.4128C>G	XP_005255182.1:p.Ile1376Met
XM_006720848.2:c.4284C>G	XP_006720911.1:p.Ile1428Met
XM_011522380.1:c.4491C>G	XP_011520682.1:p.Ile1497Met
XM_011522381.1:c.3792C>G	XP_011520683.1:p.Ile1264Met
XM_005255124.4:c.4500C>G	XP_005255181.1:p.Ile1500Met
XM_005255125.4:c.4128C>G	XP_005255182.1:p.Ile1376Met
XM_006720848.3:c.4284C>G	XP_006720911.1:p.Ile1428Met
XM_011522381.2:c.3792C>G	XP_011520683.1:p.Ile1264Met
XM_017022944.1:c.4539C>G	XP_016878433.1:p.Ile1513Met
NM_004380.3:c.4545C>G MANE Select	NP_004371.2:p.Ile1515Met