Canonical Allele Identifier: CA394550072

Gene: CREBBP

Linked Data

• dbSNP Id: rs1245819305
• MyVariant Identifiers: chr16:g.3777728C>A (hg19) ; chr16:g.3727727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727727C>A , CM000678.2:g.3727727C>A	GRCh38
NC_000016.9:g.3777728C>A , CM000678.1:g.3777728C>A	GRCh37
NC_000016.8:g.3717729C>A	NCBI36
NG_009873.1:g.157394G>T
NG_009873.2:g.157987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7320G>T MANE Select	ENSP00000262367.5:p.Glu2440Asp
ENST00000262367.9:c.7320G>T	ENSP00000262367.5:p.Glu2440Asp
ENST00000382070.7:c.7206G>T	ENSP00000371502.3:p.Glu2402Asp
NM_001079846.1:c.7206G>T	NP_001073315.1:p.Glu2402Asp
NM_004380.2:c.7320G>T	NP_004371.2:p.Glu2440Asp
XM_005255124.3:c.7275G>T	XP_005255181.1:p.Glu2425Asp
XM_005255125.3:c.6903G>T	XP_005255182.1:p.Glu2301Asp
XM_006720848.2:c.7059G>T	XP_006720911.1:p.Glu2353Asp
XM_011522380.1:c.7266G>T	XP_011520682.1:p.Glu2422Asp
XM_011522381.1:c.6567G>T	XP_011520683.1:p.Glu2189Asp
XM_005255124.4:c.7275G>T	XP_005255181.1:p.Glu2425Asp
XM_005255125.4:c.6903G>T	XP_005255182.1:p.Glu2301Asp
XM_006720848.3:c.7059G>T	XP_006720911.1:p.Glu2353Asp
XM_011522381.2:c.6567G>T	XP_011520683.1:p.Glu2189Asp
XM_017022944.1:c.7314G>T	XP_016878433.1:p.Glu2438Asp
NM_004380.3:c.7320G>T MANE Select	NP_004371.2:p.Glu2440Asp