Canonical Allele Identifier: CA394553900

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305513
• MyVariant Identifiers: chr16:g.3778844T>A (hg19) ; chr16:g.3728843T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728843T>A , CM000678.2:g.3728843T>A	GRCh38
NC_000016.9:g.3778844T>A , CM000678.1:g.3778844T>A	GRCh37
NC_000016.8:g.3718845T>A	NCBI36
NG_009873.1:g.156278A>T
NG_009873.2:g.156871A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6204A>T MANE Select	ENSP00000262367.5:p.Gln2068His
ENST00000262367.9:c.6204A>T	ENSP00000262367.5:p.Gln2068His
ENST00000382070.7:c.6090A>T	ENSP00000371502.3:p.Gln2030His
NM_001079846.1:c.6090A>T	NP_001073315.1:p.Gln2030His
NM_004380.2:c.6204A>T	NP_004371.2:p.Gln2068His
XM_005255124.3:c.6159A>T	XP_005255181.1:p.Gln2053His
XM_005255125.3:c.5787A>T	XP_005255182.1:p.Gln1929His
XM_006720848.2:c.5943A>T	XP_006720911.1:p.Gln1981His
XM_011522380.1:c.6150A>T	XP_011520682.1:p.Gln2050His
XM_011522381.1:c.5451A>T	XP_011520683.1:p.Gln1817His
XM_005255124.4:c.6159A>T	XP_005255181.1:p.Gln2053His
XM_005255125.4:c.5787A>T	XP_005255182.1:p.Gln1929His
XM_006720848.3:c.5943A>T	XP_006720911.1:p.Gln1981His
XM_011522381.2:c.5451A>T	XP_011520683.1:p.Gln1817His
XM_017022944.1:c.6198A>T	XP_016878433.1:p.Gln2066His
NM_004380.3:c.6204A>T MANE Select	NP_004371.2:p.Gln2068His