Canonical Allele Identifier: CA394562242

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736092G>A , CM000678.2:g.3736092G>A	GRCh38
NC_000016.9:g.3786093G>A , CM000678.1:g.3786093G>A	GRCh37
NC_000016.8:g.3726094G>A	NCBI36
NG_009873.1:g.149029C>T
NG_009873.2:g.149622C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4672C>T MANE Select	NP_004371.2:p.Gln1558Ter
ENST00000262367.10:c.4672C>T MANE Select	ENSP00000262367.5:p.Gln1558Ter
NM_001079846.1:c.4558C>T	NP_001073315.1:p.Gln1520Ter
NM_004380.2:c.4672C>T	NP_004371.2:p.Gln1558Ter
ENST00000262367.9:c.4672C>T	ENSP00000262367.5:p.Gln1558Ter
ENST00000382070.7:c.4558C>T	ENSP00000371502.3:p.Gln1520Ter
ENST00000570939.2:c.3307C>T	ENSP00000461002.2:p.Gln1103Ter
ENST00000571763.5:n.462C>T
ENST00000576720.1:n.3495C>T
XM_005255124.3:c.4627C>T	XP_005255181.1:p.Gln1543Ter
XM_005255124.4:c.4627C>T	XP_005255181.1:p.Gln1543Ter
XM_005255125.3:c.4255C>T	XP_005255182.1:p.Gln1419Ter
XM_005255125.4:c.4255C>T	XP_005255182.1:p.Gln1419Ter
XM_006720848.2:c.4411C>T	XP_006720911.1:p.Gln1471Ter
XM_006720848.3:c.4411C>T	XP_006720911.1:p.Gln1471Ter
XM_011522380.1:c.4618C>T	XP_011520682.1:p.Gln1540Ter
XM_011522381.1:c.3919C>T	XP_011520683.1:p.Gln1307Ter
XM_011522381.2:c.3919C>T	XP_011520683.1:p.Gln1307Ter
XM_017022944.1:c.4666C>T	XP_016878433.1:p.Gln1556Ter