Canonical Allele Identifier: CA394553834

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305272
• MyVariant Identifiers: chr16:g.3778812G>A (hg19) ; chr16:g.3728811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728811G>A , CM000678.2:g.3728811G>A	GRCh38
NC_000016.9:g.3778812G>A , CM000678.1:g.3778812G>A	GRCh37
NC_000016.8:g.3718813G>A	NCBI36
NG_009873.1:g.156310C>T
NG_009873.2:g.156903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6236C>T MANE Select	ENSP00000262367.5:p.Ser2079Phe
ENST00000262367.9:c.6236C>T	ENSP00000262367.5:p.Ser2079Phe
ENST00000382070.7:c.6122C>T	ENSP00000371502.3:p.Ser2041Phe
NM_001079846.1:c.6122C>T	NP_001073315.1:p.Ser2041Phe
NM_004380.2:c.6236C>T	NP_004371.2:p.Ser2079Phe
XM_005255124.3:c.6191C>T	XP_005255181.1:p.Ser2064Phe
XM_005255125.3:c.5819C>T	XP_005255182.1:p.Ser1940Phe
XM_006720848.2:c.5975C>T	XP_006720911.1:p.Ser1992Phe
XM_011522380.1:c.6182C>T	XP_011520682.1:p.Ser2061Phe
XM_011522381.1:c.5483C>T	XP_011520683.1:p.Ser1828Phe
XM_005255124.4:c.6191C>T	XP_005255181.1:p.Ser2064Phe
XM_005255125.4:c.5819C>T	XP_005255182.1:p.Ser1940Phe
XM_006720848.3:c.5975C>T	XP_006720911.1:p.Ser1992Phe
XM_011522381.2:c.5483C>T	XP_011520683.1:p.Ser1828Phe
XM_017022944.1:c.6230C>T	XP_016878433.1:p.Ser2077Phe
NM_004380.3:c.6236C>T MANE Select	NP_004371.2:p.Ser2079Phe