Canonical Allele Identifier: CA394554984

Gene: CREBBP

Linked Data

• dbSNP Id: rs769818976
• MyVariant Identifiers: chr16:g.3779127C>G (hg19) ; chr16:g.3729126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729126C>G , CM000678.2:g.3729126C>G	GRCh38
NC_000016.9:g.3779127C>G , CM000678.1:g.3779127C>G	GRCh37
NC_000016.8:g.3719128C>G	NCBI36
NG_009873.1:g.155995G>C
NG_009873.2:g.156588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5921G>C MANE Select	ENSP00000262367.5:p.Arg1974Pro
ENST00000262367.9:c.5921G>C	ENSP00000262367.5:p.Arg1974Pro
ENST00000382070.7:c.5807G>C	ENSP00000371502.3:p.Arg1936Pro
NM_001079846.1:c.5807G>C	NP_001073315.1:p.Arg1936Pro
NM_004380.2:c.5921G>C	NP_004371.2:p.Arg1974Pro
XM_005255124.3:c.5876G>C	XP_005255181.1:p.Arg1959Pro
XM_005255125.3:c.5504G>C	XP_005255182.1:p.Arg1835Pro
XM_006720848.2:c.5660G>C	XP_006720911.1:p.Arg1887Pro
XM_011522380.1:c.5867G>C	XP_011520682.1:p.Arg1956Pro
XM_011522381.1:c.5168G>C	XP_011520683.1:p.Arg1723Pro
XM_005255124.4:c.5876G>C	XP_005255181.1:p.Arg1959Pro
XM_005255125.4:c.5504G>C	XP_005255182.1:p.Arg1835Pro
XM_006720848.3:c.5660G>C	XP_006720911.1:p.Arg1887Pro
XM_011522381.2:c.5168G>C	XP_011520683.1:p.Arg1723Pro
XM_017022944.1:c.5915G>C	XP_016878433.1:p.Arg1972Pro
NM_004380.3:c.5921G>C MANE Select	NP_004371.2:p.Arg1974Pro