Canonical Allele Identifier: CA394550146

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777762T>G (hg19) ; chr16:g.3727761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727761T>G , CM000678.2:g.3727761T>G	GRCh38
NC_000016.9:g.3777762T>G , CM000678.1:g.3777762T>G	GRCh37
NC_000016.8:g.3717763T>G	NCBI36
NG_009873.1:g.157360A>C
NG_009873.2:g.157953A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7286A>C MANE Select	ENSP00000262367.5:p.Asp2429Ala
ENST00000262367.9:c.7286A>C	ENSP00000262367.5:p.Asp2429Ala
ENST00000382070.7:c.7172A>C	ENSP00000371502.3:p.Asp2391Ala
NM_001079846.1:c.7172A>C	NP_001073315.1:p.Asp2391Ala
NM_004380.2:c.7286A>C	NP_004371.2:p.Asp2429Ala
XM_005255124.3:c.7241A>C	XP_005255181.1:p.Asp2414Ala
XM_005255125.3:c.6869A>C	XP_005255182.1:p.Asp2290Ala
XM_006720848.2:c.7025A>C	XP_006720911.1:p.Asp2342Ala
XM_011522380.1:c.7232A>C	XP_011520682.1:p.Asp2411Ala
XM_011522381.1:c.6533A>C	XP_011520683.1:p.Asp2178Ala
XM_005255124.4:c.7241A>C	XP_005255181.1:p.Asp2414Ala
XM_005255125.4:c.6869A>C	XP_005255182.1:p.Asp2290Ala
XM_006720848.3:c.7025A>C	XP_006720911.1:p.Asp2342Ala
XM_011522381.2:c.6533A>C	XP_011520683.1:p.Asp2178Ala
XM_017022944.1:c.7280A>C	XP_016878433.1:p.Asp2427Ala
NM_004380.3:c.7286A>C MANE Select	NP_004371.2:p.Asp2429Ala