Canonical Allele Identifier: CA7870155

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3773854G>A , CM000678.2:g.3773854G>A	GRCh38
NC_000016.9:g.3823855G>A , CM000678.1:g.3823855G>A	GRCh37
NC_000016.8:g.3763856G>A	NCBI36
NG_009873.1:g.111267C>T
NG_009873.2:g.111860C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2360C>T MANE Select	NP_004371.2:p.Ala787Val
ENST00000262367.10:c.2360C>T MANE Select	ENSP00000262367.5:p.Ala787Val
NM_001079846.1:c.2246C>T	NP_001073315.1:p.Ala749Val
NM_004380.2:c.2360C>T	NP_004371.2:p.Ala787Val
ENST00000262367.9:c.2360C>T	ENSP00000262367.5:p.Ala787Val
ENST00000382070.7:c.2246C>T	ENSP00000371502.3:p.Ala749Val
ENST00000570939.2:c.965C>T	ENSP00000461002.2:p.Ala322Val
ENST00000571826.5:c.409C>T
ENST00000572134.1:c.628C>T
ENST00000575237.2:n.255C>T
XM_005255124.3:c.2315C>T	XP_005255181.1:p.Ala772Val
XM_005255124.4:c.2315C>T	XP_005255181.1:p.Ala772Val
XM_005255125.3:c.2360C>T	XP_005255182.1:p.Ala787Val
XM_005255125.4:c.2360C>T	XP_005255182.1:p.Ala787Val
XM_006720848.2:c.2360C>T	XP_006720911.1:p.Ala787Val
XM_006720848.3:c.2360C>T	XP_006720911.1:p.Ala787Val
XM_011522380.1:c.2306C>T	XP_011520682.1:p.Ala769Val
XM_011522381.1:c.1607C>T	XP_011520683.1:p.Ala536Val
XM_011522381.2:c.1607C>T	XP_011520683.1:p.Ala536Val
XM_011522382.1:c.2360C>T	XP_011520684.1:p.Ala787Val
XM_011522382.3:c.2360C>T	XP_011520684.1:p.Ala787Val
XM_017022944.1:c.2360C>T	XP_016878433.1:p.Ala787Val