Canonical Allele Identifier: CA7869230

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729137C>A , CM000678.2:g.3729137C>A	GRCh38
NC_000016.9:g.3779138C>A , CM000678.1:g.3779138C>A	GRCh37
NC_000016.8:g.3719139C>A	NCBI36
NG_009873.1:g.155984G>T
NG_009873.2:g.156577G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5910G>T MANE Select	NP_004371.2:p.Gln1970His
ENST00000262367.10:c.5910G>T MANE Select	ENSP00000262367.5:p.Gln1970His
NM_001079846.1:c.5796G>T	NP_001073315.1:p.Gln1932His
NM_004380.2:c.5910G>T	NP_004371.2:p.Gln1970His
ENST00000262367.9:c.5910G>T	ENSP00000262367.5:p.Gln1970His
ENST00000382070.7:c.5796G>T	ENSP00000371502.3:p.Gln1932His
XM_005255124.3:c.5865G>T	XP_005255181.1:p.Gln1955His
XM_005255124.4:c.5865G>T	XP_005255181.1:p.Gln1955His
XM_005255125.3:c.5493G>T	XP_005255182.1:p.Gln1831His
XM_005255125.4:c.5493G>T	XP_005255182.1:p.Gln1831His
XM_006720848.2:c.5649G>T	XP_006720911.1:p.Gln1883His
XM_006720848.3:c.5649G>T	XP_006720911.1:p.Gln1883His
XM_011522380.1:c.5856G>T	XP_011520682.1:p.Gln1952His
XM_011522381.1:c.5157G>T	XP_011520683.1:p.Gln1719His
XM_011522381.2:c.5157G>T	XP_011520683.1:p.Gln1719His
XM_017022944.1:c.5904G>T	XP_016878433.1:p.Gln1968His