Canonical Allele Identifier: CA493393394

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299536
• COSMIC: COSM4674639
• MyVariant Identifiers: chr16:g.3777989C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727988C>A , CM000678.2:g.3727988C>A	GRCh38
NC_000016.9:g.3777989C>A , CM000678.1:g.3777989C>A	GRCh37
NC_000016.8:g.3717990C>A	NCBI36
NG_009873.1:g.157133G>T
NG_009873.2:g.157726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7059G>T MANE Select	ENSP00000262367.5:p.Arg2353=
ENST00000262367.9:c.7059G>T	ENSP00000262367.5:p.Arg2353=
ENST00000382070.7:c.6945G>T	ENSP00000371502.3:p.Arg2315=
NM_001079846.1:c.6945G>T	NP_001073315.1:p.Arg2315=
NM_004380.2:c.7059G>T	NP_004371.2:p.Arg2353=
XM_005255124.3:c.7014G>T	XP_005255181.1:p.Arg2338=
XM_005255125.3:c.6642G>T	XP_005255182.1:p.Arg2214=
XM_006720848.2:c.6798G>T	XP_006720911.1:p.Arg2266=
XM_011522380.1:c.7005G>T	XP_011520682.1:p.Arg2335=
XM_011522381.1:c.6306G>T	XP_011520683.1:p.Arg2102=
XM_005255124.4:c.7014G>T	XP_005255181.1:p.Arg2338=
XM_005255125.4:c.6642G>T	XP_005255182.1:p.Arg2214=
XM_006720848.3:c.6798G>T	XP_006720911.1:p.Arg2266=
XM_011522381.2:c.6306G>T	XP_011520683.1:p.Arg2102=
XM_017022944.1:c.7053G>T	XP_016878433.1:p.Arg2351=
NM_004380.3:c.7059G>T MANE Select	NP_004371.2:p.Arg2353=