Canonical Allele Identifier: CA493393635

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304811
• MyVariant Identifiers: chr16:g.3778736G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728735G>A , CM000678.2:g.3728735G>A	GRCh38
NC_000016.9:g.3778736G>A , CM000678.1:g.3778736G>A	GRCh37
NC_000016.8:g.3718737G>A	NCBI36
NG_009873.1:g.156386C>T
NG_009873.2:g.156979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6312C>T MANE Select	ENSP00000262367.5:p.Arg2104=
ENST00000262367.9:c.6312C>T	ENSP00000262367.5:p.Arg2104=
ENST00000382070.7:c.6198C>T	ENSP00000371502.3:p.Arg2066=
NM_001079846.1:c.6198C>T	NP_001073315.1:p.Arg2066=
NM_004380.2:c.6312C>T	NP_004371.2:p.Arg2104=
XM_005255124.3:c.6267C>T	XP_005255181.1:p.Arg2089=
XM_005255125.3:c.5895C>T	XP_005255182.1:p.Arg1965=
XM_006720848.2:c.6051C>T	XP_006720911.1:p.Arg2017=
XM_011522380.1:c.6258C>T	XP_011520682.1:p.Arg2086=
XM_011522381.1:c.5559C>T	XP_011520683.1:p.Arg1853=
XM_005255124.4:c.6267C>T	XP_005255181.1:p.Arg2089=
XM_005255125.4:c.5895C>T	XP_005255182.1:p.Arg1965=
XM_006720848.3:c.6051C>T	XP_006720911.1:p.Arg2017=
XM_011522381.2:c.5559C>T	XP_011520683.1:p.Arg1853=
XM_017022944.1:c.6306C>T	XP_016878433.1:p.Arg2102=
NM_004380.3:c.6312C>T MANE Select	NP_004371.2:p.Arg2104=