Canonical Allele Identifier: CA394563929

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329858
• MyVariant Identifiers: chr16:g.3786769T>A (hg19) ; chr16:g.3736768T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736768T>A , CM000678.2:g.3736768T>A	GRCh38
NC_000016.9:g.3786769T>A , CM000678.1:g.3786769T>A	GRCh37
NC_000016.8:g.3726770T>A	NCBI36
NG_009873.1:g.148353A>T
NG_009873.2:g.148946A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4442A>T MANE Select	ENSP00000262367.5:p.Asp1481Val
ENST00000262367.9:c.4442A>T	ENSP00000262367.5:p.Asp1481Val
ENST00000382070.7:c.4328A>T	ENSP00000371502.3:p.Asp1443Val
ENST00000570939.2:c.3077A>T	ENSP00000461002.2:p.Asp1026Val
ENST00000571763.5:n.232A>T
ENST00000574740.1:n.263A>T
ENST00000576720.1:n.3265A>T
NM_001079846.1:c.4328A>T	NP_001073315.1:p.Asp1443Val
NM_004380.2:c.4442A>T	NP_004371.2:p.Asp1481Val
XM_005255124.3:c.4397A>T	XP_005255181.1:p.Asp1466Val
XM_005255125.3:c.4025A>T	XP_005255182.1:p.Asp1342Val
XM_006720848.2:c.4181A>T	XP_006720911.1:p.Asp1394Val
XM_011522380.1:c.4388A>T	XP_011520682.1:p.Asp1463Val
XM_011522381.1:c.3689A>T	XP_011520683.1:p.Asp1230Val
XM_005255124.4:c.4397A>T	XP_005255181.1:p.Asp1466Val
XM_005255125.4:c.4025A>T	XP_005255182.1:p.Asp1342Val
XM_006720848.3:c.4181A>T	XP_006720911.1:p.Asp1394Val
XM_011522381.2:c.3689A>T	XP_011520683.1:p.Asp1230Val
XM_017022944.1:c.4436A>T	XP_016878433.1:p.Asp1479Val
NM_004380.3:c.4442A>T MANE Select	NP_004371.2:p.Asp1481Val