Canonical Allele Identifier: CA493394294

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779546T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729545T>C , CM000678.2:g.3729545T>C	GRCh38
NC_000016.9:g.3779546T>C , CM000678.1:g.3779546T>C	GRCh37
NC_000016.8:g.3719547T>C	NCBI36
NG_009873.1:g.155576A>G
NG_009873.2:g.156169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5502A>G MANE Select	ENSP00000262367.5:p.Gln1834=
ENST00000262367.9:c.5502A>G	ENSP00000262367.5:p.Gln1834=
ENST00000382070.7:c.5388A>G	ENSP00000371502.3:p.Gln1796=
NM_001079846.1:c.5388A>G	NP_001073315.1:p.Gln1796=
NM_004380.2:c.5502A>G	NP_004371.2:p.Gln1834=
XM_005255124.3:c.5457A>G	XP_005255181.1:p.Gln1819=
XM_005255125.3:c.5085A>G	XP_005255182.1:p.Gln1695=
XM_006720848.2:c.5241A>G	XP_006720911.1:p.Gln1747=
XM_011522380.1:c.5448A>G	XP_011520682.1:p.Gln1816=
XM_011522381.1:c.4749A>G	XP_011520683.1:p.Gln1583=
XM_005255124.4:c.5457A>G	XP_005255181.1:p.Gln1819=
XM_005255125.4:c.5085A>G	XP_005255182.1:p.Gln1695=
XM_006720848.3:c.5241A>G	XP_006720911.1:p.Gln1747=
XM_011522381.2:c.4749A>G	XP_011520683.1:p.Gln1583=
XM_017022944.1:c.5496A>G	XP_016878433.1:p.Gln1832=
NM_004380.3:c.5502A>G MANE Select	NP_004371.2:p.Gln1834=