Canonical Allele Identifier: CA394557181

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311712
• MyVariant Identifiers: chr16:g.3779727C>G (hg19) ; chr16:g.3729726C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729726C>G , CM000678.2:g.3729726C>G	GRCh38
NC_000016.9:g.3779727C>G , CM000678.1:g.3779727C>G	GRCh37
NC_000016.8:g.3719728C>G	NCBI36
NG_009873.1:g.155395G>C
NG_009873.2:g.155988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5321G>C MANE Select	ENSP00000262367.5:p.Arg1774Pro
ENST00000262367.9:c.5321G>C	ENSP00000262367.5:p.Arg1774Pro
ENST00000382070.7:c.5207G>C	ENSP00000371502.3:p.Arg1736Pro
NM_001079846.1:c.5207G>C	NP_001073315.1:p.Arg1736Pro
NM_004380.2:c.5321G>C	NP_004371.2:p.Arg1774Pro
XM_005255124.3:c.5276G>C	XP_005255181.1:p.Arg1759Pro
XM_005255125.3:c.4904G>C	XP_005255182.1:p.Arg1635Pro
XM_006720848.2:c.5060G>C	XP_006720911.1:p.Arg1687Pro
XM_011522380.1:c.5267G>C	XP_011520682.1:p.Arg1756Pro
XM_011522381.1:c.4568G>C	XP_011520683.1:p.Arg1523Pro
XM_005255124.4:c.5276G>C	XP_005255181.1:p.Arg1759Pro
XM_005255125.4:c.4904G>C	XP_005255182.1:p.Arg1635Pro
XM_006720848.3:c.5060G>C	XP_006720911.1:p.Arg1687Pro
XM_011522381.2:c.4568G>C	XP_011520683.1:p.Arg1523Pro
XM_017022944.1:c.5315G>C	XP_016878433.1:p.Arg1772Pro
NM_004380.3:c.5321G>C MANE Select	NP_004371.2:p.Arg1774Pro