Canonical Allele Identifier: CA394556518

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311031
• COSMIC: COSM2919930
• MyVariant Identifiers: chr16:g.3779638G>A (hg19) ; chr16:g.3729637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729637G>A , CM000678.2:g.3729637G>A	GRCh38
NC_000016.9:g.3779638G>A , CM000678.1:g.3779638G>A	GRCh37
NC_000016.8:g.3719639G>A	NCBI36
NG_009873.1:g.155484C>T
NG_009873.2:g.156077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5410C>T MANE Select	ENSP00000262367.5:p.His1804Tyr
ENST00000262367.9:c.5410C>T	ENSP00000262367.5:p.His1804Tyr
ENST00000382070.7:c.5296C>T	ENSP00000371502.3:p.His1766Tyr
NM_001079846.1:c.5296C>T	NP_001073315.1:p.His1766Tyr
NM_004380.2:c.5410C>T	NP_004371.2:p.His1804Tyr
XM_005255124.3:c.5365C>T	XP_005255181.1:p.His1789Tyr
XM_005255125.3:c.4993C>T	XP_005255182.1:p.His1665Tyr
XM_006720848.2:c.5149C>T	XP_006720911.1:p.His1717Tyr
XM_011522380.1:c.5356C>T	XP_011520682.1:p.His1786Tyr
XM_011522381.1:c.4657C>T	XP_011520683.1:p.His1553Tyr
XM_005255124.4:c.5365C>T	XP_005255181.1:p.His1789Tyr
XM_005255125.4:c.4993C>T	XP_005255182.1:p.His1665Tyr
XM_006720848.3:c.5149C>T	XP_006720911.1:p.His1717Tyr
XM_011522381.2:c.4657C>T	XP_011520683.1:p.His1553Tyr
XM_017022944.1:c.5404C>T	XP_016878433.1:p.His1802Tyr
NM_004380.3:c.5410C>T MANE Select	NP_004371.2:p.His1804Tyr