Canonical Allele Identifier: CA7869241

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729216G>A , CM000678.2:g.3729216G>A	GRCh38
NC_000016.9:g.3779217G>A , CM000678.1:g.3779217G>A	GRCh37
NC_000016.8:g.3719218G>A	NCBI36
NG_009873.1:g.155905C>T
NG_009873.2:g.156498C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5831C>T MANE Select	NP_004371.2:p.Ala1944Val
ENST00000262367.10:c.5831C>T MANE Select	ENSP00000262367.5:p.Ala1944Val
NM_001079846.1:c.5717C>T	NP_001073315.1:p.Ala1906Val
NM_004380.2:c.5831C>T	NP_004371.2:p.Ala1944Val
ENST00000262367.9:c.5831C>T	ENSP00000262367.5:p.Ala1944Val
ENST00000382070.7:c.5717C>T	ENSP00000371502.3:p.Ala1906Val
XM_005255124.3:c.5786C>T	XP_005255181.1:p.Ala1929Val
XM_005255124.4:c.5786C>T	XP_005255181.1:p.Ala1929Val
XM_005255125.3:c.5414C>T	XP_005255182.1:p.Ala1805Val
XM_005255125.4:c.5414C>T	XP_005255182.1:p.Ala1805Val
XM_006720848.2:c.5570C>T	XP_006720911.1:p.Ala1857Val
XM_006720848.3:c.5570C>T	XP_006720911.1:p.Ala1857Val
XM_011522380.1:c.5777C>T	XP_011520682.1:p.Ala1926Val
XM_011522381.1:c.5078C>T	XP_011520683.1:p.Ala1693Val
XM_011522381.2:c.5078C>T	XP_011520683.1:p.Ala1693Val
XM_017022944.1:c.5825C>T	XP_016878433.1:p.Ala1942Val