Canonical Allele Identifier: CA394570431

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767743G>A , CM000678.2:g.3767743G>A	GRCh38
NC_000016.9:g.3817744G>A , CM000678.1:g.3817744G>A	GRCh37
NC_000016.8:g.3757745G>A	NCBI36
NG_009873.1:g.117378C>T
NG_009873.2:g.117971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3227C>T MANE Select	ENSP00000262367.5:p.Ser1076Phe
ENST00000262367.9:c.3227C>T	ENSP00000262367.5:p.Ser1076Phe
ENST00000382070.7:c.3113C>T	ENSP00000371502.3:p.Ser1038Phe
ENST00000570939.2:c.1832C>T	ENSP00000461002.2:p.Ser611Phe
ENST00000573672.1:n.481C>T
NM_001079846.1:c.3113C>T	NP_001073315.1:p.Ser1038Phe
NM_004380.2:c.3227C>T	NP_004371.2:p.Ser1076Phe
XM_005255124.3:c.3182C>T	XP_005255181.1:p.Ser1061Phe
XM_005255125.3:c.2810C>T	XP_005255182.1:p.Ser937Phe
XM_006720848.2:c.3227C>T	XP_006720911.1:p.Ser1076Phe
XM_011522380.1:c.3173C>T	XP_011520682.1:p.Ser1058Phe
XM_011522381.1:c.2474C>T	XP_011520683.1:p.Ser825Phe
XM_011522382.1:c.3227C>T	XP_011520684.1:p.Ser1076Phe
XM_005255124.4:c.3182C>T	XP_005255181.1:p.Ser1061Phe
XM_005255125.4:c.2810C>T	XP_005255182.1:p.Ser937Phe
XM_006720848.3:c.3227C>T	XP_006720911.1:p.Ser1076Phe
XM_011522381.2:c.2474C>T	XP_011520683.1:p.Ser825Phe
XM_011522382.3:c.3227C>T	XP_011520684.1:p.Ser1076Phe
XM_017022944.1:c.3221C>T	XP_016878433.1:p.Ser1074Phe
NM_004380.3:c.3227C>T MANE Select	NP_004371.2:p.Ser1076Phe