Canonical Allele Identifier: CA394550052

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151297772
• MyVariant Identifiers: chr16:g.3777719C>G (hg19) ; chr16:g.3727718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727718C>G , CM000678.2:g.3727718C>G	GRCh38
NC_000016.9:g.3777719C>G , CM000678.1:g.3777719C>G	GRCh37
NC_000016.8:g.3717720C>G	NCBI36
NG_009873.1:g.157403G>C
NG_009873.2:g.157996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7329G>C MANE Select	ENSP00000262367.5:p.Ter2443Tyr
ENST00000262367.9:c.7329G>C	ENSP00000262367.5:p.Ter2443Tyr
ENST00000382070.7:c.7215G>C	ENSP00000371502.3:p.Ter2405Tyr
NM_001079846.1:c.7215G>C	NP_001073315.1:p.Ter2405Tyr
NM_004380.2:c.7329G>C	NP_004371.2:p.Ter2443Tyr
XM_005255124.3:c.7284G>C	XP_005255181.1:p.Ter2428Tyr
XM_005255125.3:c.6912G>C	XP_005255182.1:p.Ter2304Tyr
XM_006720848.2:c.7068G>C	XP_006720911.1:p.Ter2356Tyr
XM_011522380.1:c.7275G>C	XP_011520682.1:p.Ter2425Tyr
XM_011522381.1:c.6576G>C	XP_011520683.1:p.Ter2192Tyr
XM_005255124.4:c.7284G>C	XP_005255181.1:p.Ter2428Tyr
XM_005255125.4:c.6912G>C	XP_005255182.1:p.Ter2304Tyr
XM_006720848.3:c.7068G>C	XP_006720911.1:p.Ter2356Tyr
XM_011522381.2:c.6576G>C	XP_011520683.1:p.Ter2192Tyr
XM_017022944.1:c.7323G>C	XP_016878433.1:p.Ter2441Tyr
NM_004380.3:c.7329G>C MANE Select	NP_004371.2:p.Ter2443Tyr