Canonical Allele Identifier: CA394554085

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3827637A>G (hg19) ; chr16:g.3777636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777636A>G , CM000678.2:g.3777636A>G	GRCh38
NC_000016.9:g.3827637A>G , CM000678.1:g.3827637A>G	GRCh37
NC_000016.8:g.3767638A>G	NCBI36
NG_009873.1:g.107485T>C
NG_009873.2:g.108078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2135T>C MANE Select	ENSP00000262367.5:p.Val712Ala
ENST00000262367.9:c.2135T>C	ENSP00000262367.5:p.Val712Ala
ENST00000382070.7:c.2021T>C	ENSP00000371502.3:p.Val674Ala
ENST00000570939.2:c.740T>C	ENSP00000461002.2:p.Val247Ala
ENST00000571826.5:c.184T>C
ENST00000572134.1:c.426+375T>C
NM_001079846.1:c.2021T>C	NP_001073315.1:p.Val674Ala
NM_004380.2:c.2135T>C	NP_004371.2:p.Val712Ala
XM_005255124.3:c.2113+375T>C	XP_005255181.1:n.2113+375T>C
XM_005255125.3:c.2135T>C	XP_005255182.1:p.Val712Ala
XM_006720848.2:c.2135T>C	XP_006720911.1:p.Val712Ala
XM_011522380.1:c.2081T>C	XP_011520682.1:p.Val694Ala
XM_011522381.1:c.1382T>C	XP_011520683.1:p.Val461Ala
XM_011522382.1:c.2135T>C	XP_011520684.1:p.Val712Ala
XM_005255124.4:c.2113+375T>C	XP_005255181.1:n.2113+375T>C
XM_005255125.4:c.2135T>C	XP_005255182.1:p.Val712Ala
XM_006720848.3:c.2135T>C	XP_006720911.1:p.Val712Ala
XM_011522381.2:c.1382T>C	XP_011520683.1:p.Val461Ala
XM_011522382.3:c.2135T>C	XP_011520684.1:p.Val712Ala
XM_017022944.1:c.2135T>C	XP_016878433.1:p.Val712Ala
NM_004380.3:c.2135T>C MANE Select	NP_004371.2:p.Val712Ala