Canonical Allele Identifier: CA394557063

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729691G>C , CM000678.2:g.3729691G>C	GRCh38
NC_000016.9:g.3779692G>C , CM000678.1:g.3779692G>C	GRCh37
NC_000016.8:g.3719693G>C	NCBI36
NG_009873.1:g.155430C>G
NG_009873.2:g.156023C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5356C>G MANE Select	NP_004371.2:p.Arg1786Gly
ENST00000262367.10:c.5356C>G MANE Select	ENSP00000262367.5:p.Arg1786Gly
NM_001079846.1:c.5242C>G	NP_001073315.1:p.Arg1748Gly
NM_004380.2:c.5356C>G	NP_004371.2:p.Arg1786Gly
ENST00000262367.9:c.5356C>G	ENSP00000262367.5:p.Arg1786Gly
ENST00000382070.7:c.5242C>G	ENSP00000371502.3:p.Arg1748Gly
XM_005255124.3:c.5311C>G	XP_005255181.1:p.Arg1771Gly
XM_005255124.4:c.5311C>G	XP_005255181.1:p.Arg1771Gly
XM_005255125.3:c.4939C>G	XP_005255182.1:p.Arg1647Gly
XM_005255125.4:c.4939C>G	XP_005255182.1:p.Arg1647Gly
XM_006720848.2:c.5095C>G	XP_006720911.1:p.Arg1699Gly
XM_006720848.3:c.5095C>G	XP_006720911.1:p.Arg1699Gly
XM_011522380.1:c.5302C>G	XP_011520682.1:p.Arg1768Gly
XM_011522381.1:c.4603C>G	XP_011520683.1:p.Arg1535Gly
XM_011522381.2:c.4603C>G	XP_011520683.1:p.Arg1535Gly
XM_017022944.1:c.5350C>G	XP_016878433.1:p.Arg1784Gly