Canonical Allele Identifier: CA7869113

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728614T>C , CM000678.2:g.3728614T>C	GRCh38
NC_000016.9:g.3778615T>C , CM000678.1:g.3778615T>C	GRCh37
NC_000016.8:g.3718616T>C	NCBI36
NG_009873.1:g.156507A>G
NG_009873.2:g.157100A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6433A>G MANE Select	NP_004371.2:p.Met2145Val
ENST00000262367.10:c.6433A>G MANE Select	ENSP00000262367.5:p.Met2145Val
NM_001079846.1:c.6319A>G	NP_001073315.1:p.Met2107Val
NM_004380.2:c.6433A>G	NP_004371.2:p.Met2145Val
ENST00000262367.9:c.6433A>G	ENSP00000262367.5:p.Met2145Val
ENST00000382070.7:c.6319A>G	ENSP00000371502.3:p.Met2107Val
XM_005255124.3:c.6388A>G	XP_005255181.1:p.Met2130Val
XM_005255124.4:c.6388A>G	XP_005255181.1:p.Met2130Val
XM_005255125.3:c.6016A>G	XP_005255182.1:p.Met2006Val
XM_005255125.4:c.6016A>G	XP_005255182.1:p.Met2006Val
XM_006720848.2:c.6172A>G	XP_006720911.1:p.Met2058Val
XM_006720848.3:c.6172A>G	XP_006720911.1:p.Met2058Val
XM_011522380.1:c.6379A>G	XP_011520682.1:p.Met2127Val
XM_011522381.1:c.5680A>G	XP_011520683.1:p.Met1894Val
XM_011522381.2:c.5680A>G	XP_011520683.1:p.Met1894Val
XM_017022944.1:c.6427A>G	XP_016878433.1:p.Met2143Val