Canonical Allele Identifier: CA7870159

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3773867T>C , CM000678.2:g.3773867T>C	GRCh38
NC_000016.9:g.3823868T>C , CM000678.1:g.3823868T>C	GRCh37
NC_000016.8:g.3763869T>C	NCBI36
NG_009873.1:g.111254A>G
NG_009873.2:g.111847A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2347A>G MANE Select	NP_004371.2:p.Met783Val
ENST00000262367.10:c.2347A>G MANE Select	ENSP00000262367.5:p.Met783Val
NM_001079846.1:c.2233A>G	NP_001073315.1:p.Met745Val
NM_004380.2:c.2347A>G	NP_004371.2:p.Met783Val
ENST00000262367.9:c.2347A>G	ENSP00000262367.5:p.Met783Val
ENST00000382070.7:c.2233A>G	ENSP00000371502.3:p.Met745Val
ENST00000570939.2:c.952A>G	ENSP00000461002.2:p.Met318Val
ENST00000571826.5:c.396A>G
ENST00000572134.1:c.615A>G
ENST00000575237.2:n.242A>G
XM_005255124.3:c.2302A>G	XP_005255181.1:p.Met768Val
XM_005255124.4:c.2302A>G	XP_005255181.1:p.Met768Val
XM_005255125.3:c.2347A>G	XP_005255182.1:p.Met783Val
XM_005255125.4:c.2347A>G	XP_005255182.1:p.Met783Val
XM_006720848.2:c.2347A>G	XP_006720911.1:p.Met783Val
XM_006720848.3:c.2347A>G	XP_006720911.1:p.Met783Val
XM_011522380.1:c.2293A>G	XP_011520682.1:p.Met765Val
XM_011522381.1:c.1594A>G	XP_011520683.1:p.Met532Val
XM_011522381.2:c.1594A>G	XP_011520683.1:p.Met532Val
XM_011522382.1:c.2347A>G	XP_011520684.1:p.Met783Val
XM_011522382.3:c.2347A>G	XP_011520684.1:p.Met783Val
XM_017022944.1:c.2347A>G	XP_016878433.1:p.Met783Val