Canonical Allele Identifier: CA394564685

Gene: CREBBP

Linked Data

• dbSNP Id: rs145988918
• MyVariant Identifiers: chr16:g.3789582G>T (hg19) ; chr16:g.3739581G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4277C>A MANE Select	ENSP00000262367.5:p.Thr1426Lys
ENST00000262367.9:c.4277C>A	ENSP00000262367.5:p.Thr1426Lys
ENST00000382070.7:c.4163C>A	ENSP00000371502.3:p.Thr1388Lys
ENST00000570939.2:c.2912C>A	ENSP00000461002.2:p.Thr971Lys
ENST00000573517.6:c.583C>A
ENST00000574740.1:n.215+818C>A
ENST00000576720.1:n.3214C>A
NM_001079846.1:c.4163C>A	NP_001073315.1:p.Thr1388Lys
NM_004380.2:c.4277C>A	NP_004371.2:p.Thr1426Lys
XM_005255124.3:c.4232C>A	XP_005255181.1:p.Thr1411Lys
XM_005255125.3:c.3860C>A	XP_005255182.1:p.Thr1287Lys
XM_006720848.2:c.4133+818C>A	XP_006720911.1:n.4133+818C>A
XM_011522380.1:c.4223C>A	XP_011520682.1:p.Thr1408Lys
XM_011522381.1:c.3524C>A	XP_011520683.1:p.Thr1175Lys
XM_005255124.4:c.4232C>A	XP_005255181.1:p.Thr1411Lys
XM_005255125.4:c.3860C>A	XP_005255182.1:p.Thr1287Lys
XM_006720848.3:c.4133+818C>A	XP_006720911.1:n.4133+818C>A
XM_011522381.2:c.3524C>A	XP_011520683.1:p.Thr1175Lys
XM_017022944.1:c.4271C>A	XP_016878433.1:p.Thr1424Lys
NM_004380.3:c.4277C>A MANE Select	NP_004371.2:p.Thr1426Lys