Canonical Allele Identifier: CA394556170

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310326
• MyVariant Identifiers: chr16:g.3779545C>A (hg19) ; chr16:g.3729544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729544C>A , CM000678.2:g.3729544C>A	GRCh38
NC_000016.9:g.3779545C>A , CM000678.1:g.3779545C>A	GRCh37
NC_000016.8:g.3719546C>A	NCBI36
NG_009873.1:g.155577G>T
NG_009873.2:g.156170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5503G>T MANE Select	ENSP00000262367.5:p.Glu1835Ter
ENST00000262367.9:c.5503G>T	ENSP00000262367.5:p.Glu1835Ter
ENST00000382070.7:c.5389G>T	ENSP00000371502.3:p.Glu1797Ter
NM_001079846.1:c.5389G>T	NP_001073315.1:p.Glu1797Ter
NM_004380.2:c.5503G>T	NP_004371.2:p.Glu1835Ter
XM_005255124.3:c.5458G>T	XP_005255181.1:p.Glu1820Ter
XM_005255125.3:c.5086G>T	XP_005255182.1:p.Glu1696Ter
XM_006720848.2:c.5242G>T	XP_006720911.1:p.Glu1748Ter
XM_011522380.1:c.5449G>T	XP_011520682.1:p.Glu1817Ter
XM_011522381.1:c.4750G>T	XP_011520683.1:p.Glu1584Ter
XM_005255124.4:c.5458G>T	XP_005255181.1:p.Glu1820Ter
XM_005255125.4:c.5086G>T	XP_005255182.1:p.Glu1696Ter
XM_006720848.3:c.5242G>T	XP_006720911.1:p.Glu1748Ter
XM_011522381.2:c.4750G>T	XP_011520683.1:p.Glu1584Ter
XM_017022944.1:c.5497G>T	XP_016878433.1:p.Glu1833Ter
NM_004380.3:c.5503G>T MANE Select	NP_004371.2:p.Glu1835Ter