Canonical Allele Identifier: CA394557539

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151312325
• MyVariant Identifiers: chr16:g.3779808A>G (hg19) ; chr16:g.3729807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729807A>G , CM000678.2:g.3729807A>G	GRCh38
NC_000016.9:g.3779808A>G , CM000678.1:g.3779808A>G	GRCh37
NC_000016.8:g.3719809A>G	NCBI36
NG_009873.1:g.155314T>C
NG_009873.2:g.155907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5240T>C MANE Select	ENSP00000262367.5:p.Leu1747Pro
ENST00000262367.9:c.5240T>C	ENSP00000262367.5:p.Leu1747Pro
ENST00000382070.7:c.5126T>C	ENSP00000371502.3:p.Leu1709Pro
NM_001079846.1:c.5126T>C	NP_001073315.1:p.Leu1709Pro
NM_004380.2:c.5240T>C	NP_004371.2:p.Leu1747Pro
XM_005255124.3:c.5195T>C	XP_005255181.1:p.Leu1732Pro
XM_005255125.3:c.4823T>C	XP_005255182.1:p.Leu1608Pro
XM_006720848.2:c.4979T>C	XP_006720911.1:p.Leu1660Pro
XM_011522380.1:c.5186T>C	XP_011520682.1:p.Leu1729Pro
XM_011522381.1:c.4487T>C	XP_011520683.1:p.Leu1496Pro
XM_005255124.4:c.5195T>C	XP_005255181.1:p.Leu1732Pro
XM_005255125.4:c.4823T>C	XP_005255182.1:p.Leu1608Pro
XM_006720848.3:c.4979T>C	XP_006720911.1:p.Leu1660Pro
XM_011522381.2:c.4487T>C	XP_011520683.1:p.Leu1496Pro
XM_017022944.1:c.5234T>C	XP_016878433.1:p.Leu1745Pro
NM_004380.3:c.5240T>C MANE Select	NP_004371.2:p.Leu1747Pro