Canonical Allele Identifier: CA394557231

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311771
• MyVariant Identifiers: chr16:g.3779737T>C (hg19) ; chr16:g.3729736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729736T>C , CM000678.2:g.3729736T>C	GRCh38
NC_000016.9:g.3779737T>C , CM000678.1:g.3779737T>C	GRCh37
NC_000016.8:g.3719738T>C	NCBI36
NG_009873.1:g.155385A>G
NG_009873.2:g.155978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5311A>G MANE Select	ENSP00000262367.5:p.Ser1771Gly
ENST00000262367.9:c.5311A>G	ENSP00000262367.5:p.Ser1771Gly
ENST00000382070.7:c.5197A>G	ENSP00000371502.3:p.Ser1733Gly
NM_001079846.1:c.5197A>G	NP_001073315.1:p.Ser1733Gly
NM_004380.2:c.5311A>G	NP_004371.2:p.Ser1771Gly
XM_005255124.3:c.5266A>G	XP_005255181.1:p.Ser1756Gly
XM_005255125.3:c.4894A>G	XP_005255182.1:p.Ser1632Gly
XM_006720848.2:c.5050A>G	XP_006720911.1:p.Ser1684Gly
XM_011522380.1:c.5257A>G	XP_011520682.1:p.Ser1753Gly
XM_011522381.1:c.4558A>G	XP_011520683.1:p.Ser1520Gly
XM_005255124.4:c.5266A>G	XP_005255181.1:p.Ser1756Gly
XM_005255125.4:c.4894A>G	XP_005255182.1:p.Ser1632Gly
XM_006720848.3:c.5050A>G	XP_006720911.1:p.Ser1684Gly
XM_011522381.2:c.4558A>G	XP_011520683.1:p.Ser1520Gly
XM_017022944.1:c.5305A>G	XP_016878433.1:p.Ser1769Gly
NM_004380.3:c.5311A>G MANE Select	NP_004371.2:p.Ser1771Gly