Canonical Allele Identifier: CA394555530

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729265G>A , CM000678.2:g.3729265G>A	GRCh38
NC_000016.9:g.3779266G>A , CM000678.1:g.3779266G>A	GRCh37
NC_000016.8:g.3719267G>A	NCBI36
NG_009873.1:g.155856C>T
NG_009873.2:g.156449C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5782C>T MANE Select	NP_004371.2:p.Gln1928Ter
ENST00000262367.10:c.5782C>T MANE Select	ENSP00000262367.5:p.Gln1928Ter
NM_001079846.1:c.5668C>T	NP_001073315.1:p.Gln1890Ter
NM_004380.2:c.5782C>T	NP_004371.2:p.Gln1928Ter
ENST00000262367.9:c.5782C>T	ENSP00000262367.5:p.Gln1928Ter
ENST00000382070.7:c.5668C>T	ENSP00000371502.3:p.Gln1890Ter
XM_005255124.3:c.5737C>T	XP_005255181.1:p.Gln1913Ter
XM_005255124.4:c.5737C>T	XP_005255181.1:p.Gln1913Ter
XM_005255125.3:c.5365C>T	XP_005255182.1:p.Gln1789Ter
XM_005255125.4:c.5365C>T	XP_005255182.1:p.Gln1789Ter
XM_006720848.2:c.5521C>T	XP_006720911.1:p.Gln1841Ter
XM_006720848.3:c.5521C>T	XP_006720911.1:p.Gln1841Ter
XM_011522380.1:c.5728C>T	XP_011520682.1:p.Gln1910Ter
XM_011522381.1:c.5029C>T	XP_011520683.1:p.Gln1677Ter
XM_011522381.2:c.5029C>T	XP_011520683.1:p.Gln1677Ter
XM_017022944.1:c.5776C>T	XP_016878433.1:p.Gln1926Ter