Canonical Allele Identifier: CA7870022

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770596C>T , CM000678.2:g.3770596C>T	GRCh38
NC_000016.9:g.3820597C>T , CM000678.1:g.3820597C>T	GRCh37
NC_000016.8:g.3760598C>T	NCBI36
NG_009873.1:g.114525G>A
NG_009873.2:g.115118G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2854G>A MANE Select	NP_004371.2:p.Val952Met
ENST00000262367.10:c.2854G>A MANE Select	ENSP00000262367.5:p.Val952Met
NM_001079846.1:c.2740G>A	NP_001073315.1:p.Val914Met
NM_004380.2:c.2854G>A	NP_004371.2:p.Val952Met
ENST00000262367.9:c.2854G>A	ENSP00000262367.5:p.Val952Met
ENST00000382070.7:c.2740G>A	ENSP00000371502.3:p.Val914Met
ENST00000570939.2:c.1459G>A	ENSP00000461002.2:p.Val487Met
ENST00000573672.1:n.108G>A
XM_005255124.3:c.2809G>A	XP_005255181.1:p.Val937Met
XM_005255124.4:c.2809G>A	XP_005255181.1:p.Val937Met
XM_005255125.3:c.2464-1243G>A	XP_005255182.1:n.2464-1243G>A
XM_005255125.4:c.2464-1243G>A	XP_005255182.1:n.2464-1243G>A
XM_006720848.2:c.2854G>A	XP_006720911.1:p.Val952Met
XM_006720848.3:c.2854G>A	XP_006720911.1:p.Val952Met
XM_011522380.1:c.2800G>A	XP_011520682.1:p.Val934Met
XM_011522381.1:c.2101G>A	XP_011520683.1:p.Val701Met
XM_011522381.2:c.2101G>A	XP_011520683.1:p.Val701Met
XM_011522382.1:c.2854G>A	XP_011520684.1:p.Val952Met
XM_011522382.3:c.2854G>A	XP_011520684.1:p.Val952Met
XM_017022944.1:c.2848G>A	XP_016878433.1:p.Val950Met