Canonical Allele Identifier: CA394556186

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310371
• MyVariant Identifiers: chr16:g.3779551A>G (hg19) ; chr16:g.3729550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729550A>G , CM000678.2:g.3729550A>G	GRCh38
NC_000016.9:g.3779551A>G , CM000678.1:g.3779551A>G	GRCh37
NC_000016.8:g.3719552A>G	NCBI36
NG_009873.1:g.155571T>C
NG_009873.2:g.156164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5497T>C MANE Select	ENSP00000262367.5:p.Cys1833Arg
ENST00000262367.9:c.5497T>C	ENSP00000262367.5:p.Cys1833Arg
ENST00000382070.7:c.5383T>C	ENSP00000371502.3:p.Cys1795Arg
NM_001079846.1:c.5383T>C	NP_001073315.1:p.Cys1795Arg
NM_004380.2:c.5497T>C	NP_004371.2:p.Cys1833Arg
XM_005255124.3:c.5452T>C	XP_005255181.1:p.Cys1818Arg
XM_005255125.3:c.5080T>C	XP_005255182.1:p.Cys1694Arg
XM_006720848.2:c.5236T>C	XP_006720911.1:p.Cys1746Arg
XM_011522380.1:c.5443T>C	XP_011520682.1:p.Cys1815Arg
XM_011522381.1:c.4744T>C	XP_011520683.1:p.Cys1582Arg
XM_005255124.4:c.5452T>C	XP_005255181.1:p.Cys1818Arg
XM_005255125.4:c.5080T>C	XP_005255182.1:p.Cys1694Arg
XM_006720848.3:c.5236T>C	XP_006720911.1:p.Cys1746Arg
XM_011522381.2:c.4744T>C	XP_011520683.1:p.Cys1582Arg
XM_017022944.1:c.5491T>C	XP_016878433.1:p.Cys1831Arg
NM_004380.3:c.5497T>C MANE Select	NP_004371.2:p.Cys1833Arg