Canonical Allele Identifier: CA276971046

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727865G>A , CM000678.2:g.3727865G>A	GRCh38
NC_000016.9:g.3777866G>A , CM000678.1:g.3777866G>A	GRCh37
NC_000016.8:g.3717867G>A	NCBI36
NG_009873.1:g.157256C>T
NG_009873.2:g.157849C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.7182C>T MANE Select	NP_004371.2:p.Ser2394=
ENST00000262367.10:c.7182C>T MANE Select	ENSP00000262367.5:p.Ser2394=
NM_001079846.1:c.7068C>T	NP_001073315.1:p.Ser2356=
NM_004380.2:c.7182C>T	NP_004371.2:p.Ser2394=
ENST00000262367.9:c.7182C>T	ENSP00000262367.5:p.Ser2394=
ENST00000382070.7:c.7068C>T	ENSP00000371502.3:p.Ser2356=
XM_005255124.3:c.7137C>T	XP_005255181.1:p.Ser2379=
XM_005255124.4:c.7137C>T	XP_005255181.1:p.Ser2379=
XM_005255125.3:c.6765C>T	XP_005255182.1:p.Ser2255=
XM_005255125.4:c.6765C>T	XP_005255182.1:p.Ser2255=
XM_006720848.2:c.6921C>T	XP_006720911.1:p.Ser2307=
XM_006720848.3:c.6921C>T	XP_006720911.1:p.Ser2307=
XM_011522380.1:c.7128C>T	XP_011520682.1:p.Ser2376=
XM_011522381.1:c.6429C>T	XP_011520683.1:p.Ser2143=
XM_011522381.2:c.6429C>T	XP_011520683.1:p.Ser2143=
XM_017022944.1:c.7176C>T	XP_016878433.1:p.Ser2392=