Canonical Allele Identifier: CA394554997

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307319
• MyVariant Identifiers: chr16:g.3779130T>G (hg19) ; chr16:g.3729129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729129T>G , CM000678.2:g.3729129T>G	GRCh38
NC_000016.9:g.3779130T>G , CM000678.1:g.3779130T>G	GRCh37
NC_000016.8:g.3719131T>G	NCBI36
NG_009873.1:g.155992A>C
NG_009873.2:g.156585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5918A>C MANE Select	ENSP00000262367.5:p.Tyr1973Ser
ENST00000262367.9:c.5918A>C	ENSP00000262367.5:p.Tyr1973Ser
ENST00000382070.7:c.5804A>C	ENSP00000371502.3:p.Tyr1935Ser
NM_001079846.1:c.5804A>C	NP_001073315.1:p.Tyr1935Ser
NM_004380.2:c.5918A>C	NP_004371.2:p.Tyr1973Ser
XM_005255124.3:c.5873A>C	XP_005255181.1:p.Tyr1958Ser
XM_005255125.3:c.5501A>C	XP_005255182.1:p.Tyr1834Ser
XM_006720848.2:c.5657A>C	XP_006720911.1:p.Tyr1886Ser
XM_011522380.1:c.5864A>C	XP_011520682.1:p.Tyr1955Ser
XM_011522381.1:c.5165A>C	XP_011520683.1:p.Tyr1722Ser
XM_005255124.4:c.5873A>C	XP_005255181.1:p.Tyr1958Ser
XM_005255125.4:c.5501A>C	XP_005255182.1:p.Tyr1834Ser
XM_006720848.3:c.5657A>C	XP_006720911.1:p.Tyr1886Ser
XM_011522381.2:c.5165A>C	XP_011520683.1:p.Tyr1722Ser
XM_017022944.1:c.5912A>C	XP_016878433.1:p.Tyr1971Ser
NM_004380.3:c.5918A>C MANE Select	NP_004371.2:p.Tyr1973Ser