Canonical Allele Identifier: CA493393416

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051793125
• COSMIC: COSM2919893
• MyVariant Identifiers: chr16:g.3778001G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728000G>C , CM000678.2:g.3728000G>C	GRCh38
NC_000016.9:g.3778001G>C , CM000678.1:g.3778001G>C	GRCh37
NC_000016.8:g.3718002G>C	NCBI36
NG_009873.1:g.157121C>G
NG_009873.2:g.157714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7047C>G MANE Select	ENSP00000262367.5:p.Val2349=
ENST00000262367.9:c.7047C>G	ENSP00000262367.5:p.Val2349=
ENST00000382070.7:c.6933C>G	ENSP00000371502.3:p.Val2311=
NM_001079846.1:c.6933C>G	NP_001073315.1:p.Val2311=
NM_004380.2:c.7047C>G	NP_004371.2:p.Val2349=
XM_005255124.3:c.7002C>G	XP_005255181.1:p.Val2334=
XM_005255125.3:c.6630C>G	XP_005255182.1:p.Val2210=
XM_006720848.2:c.6786C>G	XP_006720911.1:p.Val2262=
XM_011522380.1:c.6993C>G	XP_011520682.1:p.Val2331=
XM_011522381.1:c.6294C>G	XP_011520683.1:p.Val2098=
XM_005255124.4:c.7002C>G	XP_005255181.1:p.Val2334=
XM_005255125.4:c.6630C>G	XP_005255182.1:p.Val2210=
XM_006720848.3:c.6786C>G	XP_006720911.1:p.Val2262=
XM_011522381.2:c.6294C>G	XP_011520683.1:p.Val2098=
XM_017022944.1:c.7041C>G	XP_016878433.1:p.Val2347=
NM_004380.3:c.7047C>G MANE Select	NP_004371.2:p.Val2349=