Canonical Allele Identifier: CA493393594

Gene: CREBBP

Linked Data

• dbSNP Id: rs149723395
• MyVariant Identifiers: chr16:g.3778115C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728114C>G , CM000678.2:g.3728114C>G	GRCh38
NC_000016.9:g.3778115C>G , CM000678.1:g.3778115C>G	GRCh37
NC_000016.8:g.3718116C>G	NCBI36
NG_009873.1:g.157007G>C
NG_009873.2:g.157600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6933G>C MANE Select	ENSP00000262367.5:p.Pro2311=
ENST00000262367.9:c.6933G>C	ENSP00000262367.5:p.Pro2311=
ENST00000382070.7:c.6819G>C	ENSP00000371502.3:p.Pro2273=
NM_001079846.1:c.6819G>C	NP_001073315.1:p.Pro2273=
NM_004380.2:c.6933G>C	NP_004371.2:p.Pro2311=
XM_005255124.3:c.6888G>C	XP_005255181.1:p.Pro2296=
XM_005255125.3:c.6516G>C	XP_005255182.1:p.Pro2172=
XM_006720848.2:c.6672G>C	XP_006720911.1:p.Pro2224=
XM_011522380.1:c.6879G>C	XP_011520682.1:p.Pro2293=
XM_011522381.1:c.6180G>C	XP_011520683.1:p.Pro2060=
XM_005255124.4:c.6888G>C	XP_005255181.1:p.Pro2296=
XM_005255125.4:c.6516G>C	XP_005255182.1:p.Pro2172=
XM_006720848.3:c.6672G>C	XP_006720911.1:p.Pro2224=
XM_011522381.2:c.6180G>C	XP_011520683.1:p.Pro2060=
XM_017022944.1:c.6927G>C	XP_016878433.1:p.Pro2309=
NM_004380.3:c.6933G>C MANE Select	NP_004371.2:p.Pro2311=