Canonical Allele Identifier: CA394553688

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2835624
• ClinVar RCV Id: RCV003758343
• MyVariant Identifiers: chr16:g.3778747T>C (hg19) ; chr16:g.3728746T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728746T>C , CM000678.2:g.3728746T>C	GRCh38
NC_000016.9:g.3778747T>C , CM000678.1:g.3778747T>C	GRCh37
NC_000016.8:g.3718748T>C	NCBI36
NG_009873.1:g.156375A>G
NG_009873.2:g.156968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6301A>G MANE Select	ENSP00000262367.5:p.Ile2101Val
ENST00000262367.9:c.6301A>G	ENSP00000262367.5:p.Ile2101Val
ENST00000382070.7:c.6187A>G	ENSP00000371502.3:p.Ile2063Val
NM_001079846.1:c.6187A>G	NP_001073315.1:p.Ile2063Val
NM_004380.2:c.6301A>G	NP_004371.2:p.Ile2101Val
XM_005255124.3:c.6256A>G	XP_005255181.1:p.Ile2086Val
XM_005255125.3:c.5884A>G	XP_005255182.1:p.Ile1962Val
XM_006720848.2:c.6040A>G	XP_006720911.1:p.Ile2014Val
XM_011522380.1:c.6247A>G	XP_011520682.1:p.Ile2083Val
XM_011522381.1:c.5548A>G	XP_011520683.1:p.Ile1850Val
XM_005255124.4:c.6256A>G	XP_005255181.1:p.Ile2086Val
XM_005255125.4:c.5884A>G	XP_005255182.1:p.Ile1962Val
XM_006720848.3:c.6040A>G	XP_006720911.1:p.Ile2014Val
XM_011522381.2:c.5548A>G	XP_011520683.1:p.Ile1850Val
XM_017022944.1:c.6295A>G	XP_016878433.1:p.Ile2099Val
NM_004380.3:c.6301A>G MANE Select	NP_004371.2:p.Ile2101Val