Canonical Allele Identifier: CA394550136

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298007
• MyVariant Identifiers: chr16:g.3777759G>A (hg19) ; chr16:g.3727758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727758G>A , CM000678.2:g.3727758G>A	GRCh38
NC_000016.9:g.3777759G>A , CM000678.1:g.3777759G>A	GRCh37
NC_000016.8:g.3717760G>A	NCBI36
NG_009873.1:g.157363C>T
NG_009873.2:g.157956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7289C>T MANE Select	ENSP00000262367.5:p.Thr2430Ile
ENST00000262367.9:c.7289C>T	ENSP00000262367.5:p.Thr2430Ile
ENST00000382070.7:c.7175C>T	ENSP00000371502.3:p.Thr2392Ile
NM_001079846.1:c.7175C>T	NP_001073315.1:p.Thr2392Ile
NM_004380.2:c.7289C>T	NP_004371.2:p.Thr2430Ile
XM_005255124.3:c.7244C>T	XP_005255181.1:p.Thr2415Ile
XM_005255125.3:c.6872C>T	XP_005255182.1:p.Thr2291Ile
XM_006720848.2:c.7028C>T	XP_006720911.1:p.Thr2343Ile
XM_011522380.1:c.7235C>T	XP_011520682.1:p.Thr2412Ile
XM_011522381.1:c.6536C>T	XP_011520683.1:p.Thr2179Ile
XM_005255124.4:c.7244C>T	XP_005255181.1:p.Thr2415Ile
XM_005255125.4:c.6872C>T	XP_005255182.1:p.Thr2291Ile
XM_006720848.3:c.7028C>T	XP_006720911.1:p.Thr2343Ile
XM_011522381.2:c.6536C>T	XP_011520683.1:p.Thr2179Ile
XM_017022944.1:c.7283C>T	XP_016878433.1:p.Thr2428Ile
NM_004380.3:c.7289C>T MANE Select	NP_004371.2:p.Thr2430Ile