Canonical Allele Identifier: CA493279545

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736773-T-C
• MyVariant Identifiers: chr16:g.3786774T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736773T>C , CM000678.2:g.3736773T>C	GRCh38
NC_000016.9:g.3786774T>C , CM000678.1:g.3786774T>C	GRCh37
NC_000016.8:g.3726775T>C	NCBI36
NG_009873.1:g.148348A>G
NG_009873.2:g.148941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4437A>G MANE Select	ENSP00000262367.5:p.Gly1479=
ENST00000262367.9:c.4437A>G	ENSP00000262367.5:p.Gly1479=
ENST00000382070.7:c.4323A>G	ENSP00000371502.3:p.Gly1441=
ENST00000570939.2:c.3072A>G	ENSP00000461002.2:p.Gly1024=
ENST00000571763.5:n.227A>G
ENST00000574740.1:n.258A>G
ENST00000576720.1:n.3260A>G
NM_001079846.1:c.4323A>G	NP_001073315.1:p.Gly1441=
NM_004380.2:c.4437A>G	NP_004371.2:p.Gly1479=
XM_005255124.3:c.4392A>G	XP_005255181.1:p.Gly1464=
XM_005255125.3:c.4020A>G	XP_005255182.1:p.Gly1340=
XM_006720848.2:c.4176A>G	XP_006720911.1:p.Gly1392=
XM_011522380.1:c.4383A>G	XP_011520682.1:p.Gly1461=
XM_011522381.1:c.3684A>G	XP_011520683.1:p.Gly1228=
XM_005255124.4:c.4392A>G	XP_005255181.1:p.Gly1464=
XM_005255125.4:c.4020A>G	XP_005255182.1:p.Gly1340=
XM_006720848.3:c.4176A>G	XP_006720911.1:p.Gly1392=
XM_011522381.2:c.3684A>G	XP_011520683.1:p.Gly1228=
XM_017022944.1:c.4431A>G	XP_016878433.1:p.Gly1477=
NM_004380.3:c.4437A>G MANE Select	NP_004371.2:p.Gly1479=