Canonical Allele Identifier: CA394564684

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 694784
• ClinVar RCV Id: RCV000856876
• dbSNP Id: rs145988918
• MyVariant Identifiers: chr16:g.3789582G>C (hg19) ; chr16:g.3739581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739581G>C , CM000678.2:g.3739581G>C	GRCh38
NC_000016.9:g.3789582G>C , CM000678.1:g.3789582G>C	GRCh37
NC_000016.8:g.3729583G>C	NCBI36
NG_009873.1:g.145540C>G
NG_009873.2:g.146133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4277C>G MANE Select	ENSP00000262367.5:p.Thr1426Arg
ENST00000262367.9:c.4277C>G	ENSP00000262367.5:p.Thr1426Arg
ENST00000382070.7:c.4163C>G	ENSP00000371502.3:p.Thr1388Arg
ENST00000570939.2:c.2912C>G	ENSP00000461002.2:p.Thr971Arg
ENST00000573517.6:c.583C>G
ENST00000574740.1:n.215+818C>G
ENST00000576720.1:n.3214C>G
NM_001079846.1:c.4163C>G	NP_001073315.1:p.Thr1388Arg
NM_004380.2:c.4277C>G	NP_004371.2:p.Thr1426Arg
XM_005255124.3:c.4232C>G	XP_005255181.1:p.Thr1411Arg
XM_005255125.3:c.3860C>G	XP_005255182.1:p.Thr1287Arg
XM_006720848.2:c.4133+818C>G	XP_006720911.1:n.4133+818C>G
XM_011522380.1:c.4223C>G	XP_011520682.1:p.Thr1408Arg
XM_011522381.1:c.3524C>G	XP_011520683.1:p.Thr1175Arg
XM_005255124.4:c.4232C>G	XP_005255181.1:p.Thr1411Arg
XM_005255125.4:c.3860C>G	XP_005255182.1:p.Thr1287Arg
XM_006720848.3:c.4133+818C>G	XP_006720911.1:n.4133+818C>G
XM_011522381.2:c.3524C>G	XP_011520683.1:p.Thr1175Arg
XM_017022944.1:c.4271C>G	XP_016878433.1:p.Thr1424Arg
NM_004380.3:c.4277C>G MANE Select	NP_004371.2:p.Thr1426Arg