Canonical Allele Identifier: CA242550

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 195880
• ClinVar RCV Id: RCV000176558 ; RCV000856877
• dbSNP Id: rs794727401
• gnomAD v4: 16-3739579-T-C
• MyVariant Identifiers: chr16:g.3789580T>C (hg19) ; chr16:g.3739579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739579T>C , CM000678.2:g.3739579T>C	GRCh38
NC_000016.9:g.3789580T>C , CM000678.1:g.3789580T>C	GRCh37
NC_000016.8:g.3729581T>C	NCBI36
NG_009873.1:g.145542A>G
NG_009873.2:g.146135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4279A>G MANE Select	ENSP00000262367.5:p.Arg1427Gly
ENST00000262367.9:c.4279A>G	ENSP00000262367.5:p.Arg1427Gly
ENST00000382070.7:c.4165A>G	ENSP00000371502.3:p.Arg1389Gly
ENST00000570939.2:c.2914A>G	ENSP00000461002.2:p.Arg972Gly
ENST00000573517.6:c.585A>G
ENST00000574740.1:n.215+820A>G
ENST00000576720.1:n.3216A>G
NM_001079846.1:c.4165A>G	NP_001073315.1:p.Arg1389Gly
NM_004380.2:c.4279A>G	NP_004371.2:p.Arg1427Gly
XM_005255124.3:c.4234A>G	XP_005255181.1:p.Arg1412Gly
XM_005255125.3:c.3862A>G	XP_005255182.1:p.Arg1288Gly
XM_006720848.2:c.4133+820A>G	XP_006720911.1:n.4133+820A>G
XM_011522380.1:c.4225A>G	XP_011520682.1:p.Arg1409Gly
XM_011522381.1:c.3526A>G	XP_011520683.1:p.Arg1176Gly
XM_005255124.4:c.4234A>G	XP_005255181.1:p.Arg1412Gly
XM_005255125.4:c.3862A>G	XP_005255182.1:p.Arg1288Gly
XM_006720848.3:c.4133+820A>G	XP_006720911.1:n.4133+820A>G
XM_011522381.2:c.3526A>G	XP_011520683.1:p.Arg1176Gly
XM_017022944.1:c.4273A>G	XP_016878433.1:p.Arg1425Gly
NM_004380.3:c.4279A>G MANE Select	NP_004371.2:p.Arg1427Gly