Canonical Allele Identifier: CA394553794

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305146
• COSMIC: COSM4060695
• MyVariant Identifiers: chr16:g.3778795G>A (hg19) ; chr16:g.3728794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728794G>A , CM000678.2:g.3728794G>A	GRCh38
NC_000016.9:g.3778795G>A , CM000678.1:g.3778795G>A	GRCh37
NC_000016.8:g.3718796G>A	NCBI36
NG_009873.1:g.156327C>T
NG_009873.2:g.156920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6253C>T MANE Select	ENSP00000262367.5:p.Gln2085Ter
ENST00000262367.9:c.6253C>T	ENSP00000262367.5:p.Gln2085Ter
ENST00000382070.7:c.6139C>T	ENSP00000371502.3:p.Gln2047Ter
NM_001079846.1:c.6139C>T	NP_001073315.1:p.Gln2047Ter
NM_004380.2:c.6253C>T	NP_004371.2:p.Gln2085Ter
XM_005255124.3:c.6208C>T	XP_005255181.1:p.Gln2070Ter
XM_005255125.3:c.5836C>T	XP_005255182.1:p.Gln1946Ter
XM_006720848.2:c.5992C>T	XP_006720911.1:p.Gln1998Ter
XM_011522380.1:c.6199C>T	XP_011520682.1:p.Gln2067Ter
XM_011522381.1:c.5500C>T	XP_011520683.1:p.Gln1834Ter
XM_005255124.4:c.6208C>T	XP_005255181.1:p.Gln2070Ter
XM_005255125.4:c.5836C>T	XP_005255182.1:p.Gln1946Ter
XM_006720848.3:c.5992C>T	XP_006720911.1:p.Gln1998Ter
XM_011522381.2:c.5500C>T	XP_011520683.1:p.Gln1834Ter
XM_017022944.1:c.6247C>T	XP_016878433.1:p.Gln2083Ter
NM_004380.3:c.6253C>T MANE Select	NP_004371.2:p.Gln2085Ter