Canonical Allele Identifier: CA7868932

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727825T>C , CM000678.2:g.3727825T>C	GRCh38
NC_000016.9:g.3777826T>C , CM000678.1:g.3777826T>C	GRCh37
NC_000016.8:g.3717827T>C	NCBI36
NG_009873.1:g.157296A>G
NG_009873.2:g.157889A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.7222A>G MANE Select	NP_004371.2:p.Met2408Val
ENST00000262367.10:c.7222A>G MANE Select	ENSP00000262367.5:p.Met2408Val
NM_001079846.1:c.7108A>G	NP_001073315.1:p.Met2370Val
NM_004380.2:c.7222A>G	NP_004371.2:p.Met2408Val
ENST00000262367.9:c.7222A>G	ENSP00000262367.5:p.Met2408Val
ENST00000382070.7:c.7108A>G	ENSP00000371502.3:p.Met2370Val
XM_005255124.3:c.7177A>G	XP_005255181.1:p.Met2393Val
XM_005255124.4:c.7177A>G	XP_005255181.1:p.Met2393Val
XM_005255125.3:c.6805A>G	XP_005255182.1:p.Met2269Val
XM_005255125.4:c.6805A>G	XP_005255182.1:p.Met2269Val
XM_006720848.2:c.6961A>G	XP_006720911.1:p.Met2321Val
XM_006720848.3:c.6961A>G	XP_006720911.1:p.Met2321Val
XM_011522380.1:c.7168A>G	XP_011520682.1:p.Met2390Val
XM_011522381.1:c.6469A>G	XP_011520683.1:p.Met2157Val
XM_011522381.2:c.6469A>G	XP_011520683.1:p.Met2157Val
XM_017022944.1:c.7216A>G	XP_016878433.1:p.Met2406Val