Canonical Allele Identifier: CA394556222

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779565T>G (hg19) ; chr16:g.3729564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729564T>G , CM000678.2:g.3729564T>G	GRCh38
NC_000016.9:g.3779565T>G , CM000678.1:g.3779565T>G	GRCh37
NC_000016.8:g.3719566T>G	NCBI36
NG_009873.1:g.155557A>C
NG_009873.2:g.156150A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5483A>C MANE Select	ENSP00000262367.5:p.Tyr1828Ser
ENST00000262367.9:c.5483A>C	ENSP00000262367.5:p.Tyr1828Ser
ENST00000382070.7:c.5369A>C	ENSP00000371502.3:p.Tyr1790Ser
NM_001079846.1:c.5369A>C	NP_001073315.1:p.Tyr1790Ser
NM_004380.2:c.5483A>C	NP_004371.2:p.Tyr1828Ser
XM_005255124.3:c.5438A>C	XP_005255181.1:p.Tyr1813Ser
XM_005255125.3:c.5066A>C	XP_005255182.1:p.Tyr1689Ser
XM_006720848.2:c.5222A>C	XP_006720911.1:p.Tyr1741Ser
XM_011522380.1:c.5429A>C	XP_011520682.1:p.Tyr1810Ser
XM_011522381.1:c.4730A>C	XP_011520683.1:p.Tyr1577Ser
XM_005255124.4:c.5438A>C	XP_005255181.1:p.Tyr1813Ser
XM_005255125.4:c.5066A>C	XP_005255182.1:p.Tyr1689Ser
XM_006720848.3:c.5222A>C	XP_006720911.1:p.Tyr1741Ser
XM_011522381.2:c.4730A>C	XP_011520683.1:p.Tyr1577Ser
XM_017022944.1:c.5477A>C	XP_016878433.1:p.Tyr1826Ser
NM_004380.3:c.5483A>C MANE Select	NP_004371.2:p.Tyr1828Ser