Canonical Allele Identifier: CA10588617

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729037G>A , CM000678.2:g.3729037G>A	GRCh38
NC_000016.9:g.3779038G>A , CM000678.1:g.3779038G>A	GRCh37
NC_000016.8:g.3719039G>A	NCBI36
NG_009873.1:g.156084C>T
NG_009873.2:g.156677C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6010C>T MANE Select	NP_004371.2:p.Arg2004Ter
ENST00000262367.10:c.6010C>T MANE Select	ENSP00000262367.5:p.Arg2004Ter
NM_001079846.1:c.5896C>T	NP_001073315.1:p.Arg1966Ter
NM_004380.2:c.6010C>T	NP_004371.2:p.Arg2004Ter
ENST00000262367.9:c.6010C>T	ENSP00000262367.5:p.Arg2004Ter
ENST00000382070.7:c.5896C>T	ENSP00000371502.3:p.Arg1966Ter
XM_005255124.3:c.5965C>T	XP_005255181.1:p.Arg1989Ter
XM_005255124.4:c.5965C>T	XP_005255181.1:p.Arg1989Ter
XM_005255125.3:c.5593C>T	XP_005255182.1:p.Arg1865Ter
XM_005255125.4:c.5593C>T	XP_005255182.1:p.Arg1865Ter
XM_006720848.2:c.5749C>T	XP_006720911.1:p.Arg1917Ter
XM_006720848.3:c.5749C>T	XP_006720911.1:p.Arg1917Ter
XM_011522380.1:c.5956C>T	XP_011520682.1:p.Arg1986Ter
XM_011522381.1:c.5257C>T	XP_011520683.1:p.Arg1753Ter
XM_011522381.2:c.5257C>T	XP_011520683.1:p.Arg1753Ter
XM_017022944.1:c.6004C>T	XP_016878433.1:p.Arg2002Ter