Canonical Allele Identifier: CA394550954

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300034
• MyVariant Identifiers: chr16:g.3778066A>G (hg19) ; chr16:g.3728065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728065A>G , CM000678.2:g.3728065A>G	GRCh38
NC_000016.9:g.3778066A>G , CM000678.1:g.3778066A>G	GRCh37
NC_000016.8:g.3718067A>G	NCBI36
NG_009873.1:g.157056T>C
NG_009873.2:g.157649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6982T>C MANE Select	ENSP00000262367.5:p.Ser2328Pro
ENST00000262367.9:c.6982T>C	ENSP00000262367.5:p.Ser2328Pro
ENST00000382070.7:c.6868T>C	ENSP00000371502.3:p.Ser2290Pro
NM_001079846.1:c.6868T>C	NP_001073315.1:p.Ser2290Pro
NM_004380.2:c.6982T>C	NP_004371.2:p.Ser2328Pro
XM_005255124.3:c.6937T>C	XP_005255181.1:p.Ser2313Pro
XM_005255125.3:c.6565T>C	XP_005255182.1:p.Ser2189Pro
XM_006720848.2:c.6721T>C	XP_006720911.1:p.Ser2241Pro
XM_011522380.1:c.6928T>C	XP_011520682.1:p.Ser2310Pro
XM_011522381.1:c.6229T>C	XP_011520683.1:p.Ser2077Pro
XM_005255124.4:c.6937T>C	XP_005255181.1:p.Ser2313Pro
XM_005255125.4:c.6565T>C	XP_005255182.1:p.Ser2189Pro
XM_006720848.3:c.6721T>C	XP_006720911.1:p.Ser2241Pro
XM_011522381.2:c.6229T>C	XP_011520683.1:p.Ser2077Pro
XM_017022944.1:c.6976T>C	XP_016878433.1:p.Ser2326Pro
NM_004380.3:c.6982T>C MANE Select	NP_004371.2:p.Ser2328Pro