Canonical Allele Identifier: CA394556415

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310833
• MyVariant Identifiers: chr16:g.3779614T>A (hg19) ; chr16:g.3729613T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729613T>A , CM000678.2:g.3729613T>A	GRCh38
NC_000016.9:g.3779614T>A , CM000678.1:g.3779614T>A	GRCh37
NC_000016.8:g.3719615T>A	NCBI36
NG_009873.1:g.155508A>T
NG_009873.2:g.156101A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5434A>T MANE Select	ENSP00000262367.5:p.Thr1812Ser
ENST00000262367.9:c.5434A>T	ENSP00000262367.5:p.Thr1812Ser
ENST00000382070.7:c.5320A>T	ENSP00000371502.3:p.Thr1774Ser
NM_001079846.1:c.5320A>T	NP_001073315.1:p.Thr1774Ser
NM_004380.2:c.5434A>T	NP_004371.2:p.Thr1812Ser
XM_005255124.3:c.5389A>T	XP_005255181.1:p.Thr1797Ser
XM_005255125.3:c.5017A>T	XP_005255182.1:p.Thr1673Ser
XM_006720848.2:c.5173A>T	XP_006720911.1:p.Thr1725Ser
XM_011522380.1:c.5380A>T	XP_011520682.1:p.Thr1794Ser
XM_011522381.1:c.4681A>T	XP_011520683.1:p.Thr1561Ser
XM_005255124.4:c.5389A>T	XP_005255181.1:p.Thr1797Ser
XM_005255125.4:c.5017A>T	XP_005255182.1:p.Thr1673Ser
XM_006720848.3:c.5173A>T	XP_006720911.1:p.Thr1725Ser
XM_011522381.2:c.4681A>T	XP_011520683.1:p.Thr1561Ser
XM_017022944.1:c.5428A>T	XP_016878433.1:p.Thr1810Ser
NM_004380.3:c.5434A>T MANE Select	NP_004371.2:p.Thr1812Ser