Canonical Allele Identifier: CA394557087

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311526
• MyVariant Identifiers: chr16:g.3779701A>G (hg19) ; chr16:g.3729700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729700A>G , CM000678.2:g.3729700A>G	GRCh38
NC_000016.9:g.3779701A>G , CM000678.1:g.3779701A>G	GRCh37
NC_000016.8:g.3719702A>G	NCBI36
NG_009873.1:g.155421T>C
NG_009873.2:g.156014T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5347T>C MANE Select	ENSP00000262367.5:p.Cys1783Arg
ENST00000262367.9:c.5347T>C	ENSP00000262367.5:p.Cys1783Arg
ENST00000382070.7:c.5233T>C	ENSP00000371502.3:p.Cys1745Arg
NM_001079846.1:c.5233T>C	NP_001073315.1:p.Cys1745Arg
NM_004380.2:c.5347T>C	NP_004371.2:p.Cys1783Arg
XM_005255124.3:c.5302T>C	XP_005255181.1:p.Cys1768Arg
XM_005255125.3:c.4930T>C	XP_005255182.1:p.Cys1644Arg
XM_006720848.2:c.5086T>C	XP_006720911.1:p.Cys1696Arg
XM_011522380.1:c.5293T>C	XP_011520682.1:p.Cys1765Arg
XM_011522381.1:c.4594T>C	XP_011520683.1:p.Cys1532Arg
XM_005255124.4:c.5302T>C	XP_005255181.1:p.Cys1768Arg
XM_005255125.4:c.4930T>C	XP_005255182.1:p.Cys1644Arg
XM_006720848.3:c.5086T>C	XP_006720911.1:p.Cys1696Arg
XM_011522381.2:c.4594T>C	XP_011520683.1:p.Cys1532Arg
XM_017022944.1:c.5341T>C	XP_016878433.1:p.Cys1781Arg
NM_004380.3:c.5347T>C MANE Select	NP_004371.2:p.Cys1783Arg