Canonical Allele Identifier: CA493393348

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777956T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727955T>A , CM000678.2:g.3727955T>A	GRCh38
NC_000016.9:g.3777956T>A , CM000678.1:g.3777956T>A	GRCh37
NC_000016.8:g.3717957T>A	NCBI36
NG_009873.1:g.157166A>T
NG_009873.2:g.157759A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7092A>T MANE Select	ENSP00000262367.5:p.Ser2364=
ENST00000262367.9:c.7092A>T	ENSP00000262367.5:p.Ser2364=
ENST00000382070.7:c.6978A>T	ENSP00000371502.3:p.Ser2326=
NM_001079846.1:c.6978A>T	NP_001073315.1:p.Ser2326=
NM_004380.2:c.7092A>T	NP_004371.2:p.Ser2364=
XM_005255124.3:c.7047A>T	XP_005255181.1:p.Ser2349=
XM_005255125.3:c.6675A>T	XP_005255182.1:p.Ser2225=
XM_006720848.2:c.6831A>T	XP_006720911.1:p.Ser2277=
XM_011522380.1:c.7038A>T	XP_011520682.1:p.Ser2346=
XM_011522381.1:c.6339A>T	XP_011520683.1:p.Ser2113=
XM_005255124.4:c.7047A>T	XP_005255181.1:p.Ser2349=
XM_005255125.4:c.6675A>T	XP_005255182.1:p.Ser2225=
XM_006720848.3:c.6831A>T	XP_006720911.1:p.Ser2277=
XM_011522381.2:c.6339A>T	XP_011520683.1:p.Ser2113=
XM_017022944.1:c.7086A>T	XP_016878433.1:p.Ser2362=
NM_004380.3:c.7092A>T MANE Select	NP_004371.2:p.Ser2364=