Canonical Allele Identifier: CA394557261

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311850
• MyVariant Identifiers: chr16:g.3779746G>A (hg19) ; chr16:g.3729745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729745G>A , CM000678.2:g.3729745G>A	GRCh38
NC_000016.9:g.3779746G>A , CM000678.1:g.3779746G>A	GRCh37
NC_000016.8:g.3719747G>A	NCBI36
NG_009873.1:g.155376C>T
NG_009873.2:g.155969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5302C>T MANE Select	ENSP00000262367.5:p.Arg1768Cys
ENST00000262367.9:c.5302C>T	ENSP00000262367.5:p.Arg1768Cys
ENST00000382070.7:c.5188C>T	ENSP00000371502.3:p.Arg1730Cys
NM_001079846.1:c.5188C>T	NP_001073315.1:p.Arg1730Cys
NM_004380.2:c.5302C>T	NP_004371.2:p.Arg1768Cys
XM_005255124.3:c.5257C>T	XP_005255181.1:p.Arg1753Cys
XM_005255125.3:c.4885C>T	XP_005255182.1:p.Arg1629Cys
XM_006720848.2:c.5041C>T	XP_006720911.1:p.Arg1681Cys
XM_011522380.1:c.5248C>T	XP_011520682.1:p.Arg1750Cys
XM_011522381.1:c.4549C>T	XP_011520683.1:p.Arg1517Cys
XM_005255124.4:c.5257C>T	XP_005255181.1:p.Arg1753Cys
XM_005255125.4:c.4885C>T	XP_005255182.1:p.Arg1629Cys
XM_006720848.3:c.5041C>T	XP_006720911.1:p.Arg1681Cys
XM_011522381.2:c.4549C>T	XP_011520683.1:p.Arg1517Cys
XM_017022944.1:c.5296C>T	XP_016878433.1:p.Arg1766Cys
NM_004380.3:c.5302C>T MANE Select	NP_004371.2:p.Arg1768Cys