Canonical Allele Identifier: CA394563999

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330027
• MyVariant Identifiers: chr16:g.3786791A>G (hg19) ; chr16:g.3736790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736790A>G , CM000678.2:g.3736790A>G	GRCh38
NC_000016.9:g.3786791A>G , CM000678.1:g.3786791A>G	GRCh37
NC_000016.8:g.3726792A>G	NCBI36
NG_009873.1:g.148331T>C
NG_009873.2:g.148924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4420T>C MANE Select	ENSP00000262367.5:p.Cys1474Arg
ENST00000262367.9:c.4420T>C	ENSP00000262367.5:p.Cys1474Arg
ENST00000382070.7:c.4306T>C	ENSP00000371502.3:p.Cys1436Arg
ENST00000570939.2:c.3055T>C	ENSP00000461002.2:p.Cys1019Arg
ENST00000571763.5:n.210T>C
ENST00000574740.1:n.241T>C
ENST00000576720.1:n.3243T>C
NM_001079846.1:c.4306T>C	NP_001073315.1:p.Cys1436Arg
NM_004380.2:c.4420T>C	NP_004371.2:p.Cys1474Arg
XM_005255124.3:c.4375T>C	XP_005255181.1:p.Cys1459Arg
XM_005255125.3:c.4003T>C	XP_005255182.1:p.Cys1335Arg
XM_006720848.2:c.4159T>C	XP_006720911.1:p.Cys1387Arg
XM_011522380.1:c.4366T>C	XP_011520682.1:p.Cys1456Arg
XM_011522381.1:c.3667T>C	XP_011520683.1:p.Cys1223Arg
XM_005255124.4:c.4375T>C	XP_005255181.1:p.Cys1459Arg
XM_005255125.4:c.4003T>C	XP_005255182.1:p.Cys1335Arg
XM_006720848.3:c.4159T>C	XP_006720911.1:p.Cys1387Arg
XM_011522381.2:c.3667T>C	XP_011520683.1:p.Cys1223Arg
XM_017022944.1:c.4414T>C	XP_016878433.1:p.Cys1472Arg
NM_004380.3:c.4420T>C MANE Select	NP_004371.2:p.Cys1474Arg