Canonical Allele Identifier: CA394550332

Gene: CREBBP

Linked Data

• dbSNP Id: rs375864984
• MyVariant Identifiers: chr16:g.3777851G>C (hg19) ; chr16:g.3727850G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727850G>C , CM000678.2:g.3727850G>C	GRCh38
NC_000016.9:g.3777851G>C , CM000678.1:g.3777851G>C	GRCh37
NC_000016.8:g.3717852G>C	NCBI36
NG_009873.1:g.157271C>G
NG_009873.2:g.157864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7197C>G MANE Select	ENSP00000262367.5:p.His2399Gln
ENST00000262367.9:c.7197C>G	ENSP00000262367.5:p.His2399Gln
ENST00000382070.7:c.7083C>G	ENSP00000371502.3:p.His2361Gln
NM_001079846.1:c.7083C>G	NP_001073315.1:p.His2361Gln
NM_004380.2:c.7197C>G	NP_004371.2:p.His2399Gln
XM_005255124.3:c.7152C>G	XP_005255181.1:p.His2384Gln
XM_005255125.3:c.6780C>G	XP_005255182.1:p.His2260Gln
XM_006720848.2:c.6936C>G	XP_006720911.1:p.His2312Gln
XM_011522380.1:c.7143C>G	XP_011520682.1:p.His2381Gln
XM_011522381.1:c.6444C>G	XP_011520683.1:p.His2148Gln
XM_005255124.4:c.7152C>G	XP_005255181.1:p.His2384Gln
XM_005255125.4:c.6780C>G	XP_005255182.1:p.His2260Gln
XM_006720848.3:c.6936C>G	XP_006720911.1:p.His2312Gln
XM_011522381.2:c.6444C>G	XP_011520683.1:p.His2148Gln
XM_017022944.1:c.7191C>G	XP_016878433.1:p.His2397Gln
NM_004380.3:c.7197C>G MANE Select	NP_004371.2:p.His2399Gln