Canonical Allele Identifier: CA394550039

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770614G>A , CM000678.2:g.3770614G>A	GRCh38
NC_000016.9:g.3820615G>A , CM000678.1:g.3820615G>A	GRCh37
NC_000016.8:g.3760616G>A	NCBI36
NG_009873.1:g.114507C>T
NG_009873.2:g.115100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2836C>T MANE Select	NP_004371.2:p.Gln946Ter
ENST00000262367.10:c.2836C>T MANE Select	ENSP00000262367.5:p.Gln946Ter
NM_001079846.1:c.2722C>T	NP_001073315.1:p.Gln908Ter
NM_004380.2:c.2836C>T	NP_004371.2:p.Gln946Ter
ENST00000262367.9:c.2836C>T	ENSP00000262367.5:p.Gln946Ter
ENST00000382070.7:c.2722C>T	ENSP00000371502.3:p.Gln908Ter
ENST00000570939.2:c.1441C>T	ENSP00000461002.2:p.Gln481Ter
ENST00000573672.1:n.90C>T
XM_005255124.3:c.2791C>T	XP_005255181.1:p.Gln931Ter
XM_005255124.4:c.2791C>T	XP_005255181.1:p.Gln931Ter
XM_005255125.3:c.2464-1261C>T	XP_005255182.1:n.2464-1261C>T
XM_005255125.4:c.2464-1261C>T	XP_005255182.1:n.2464-1261C>T
XM_006720848.2:c.2836C>T	XP_006720911.1:p.Gln946Ter
XM_006720848.3:c.2836C>T	XP_006720911.1:p.Gln946Ter
XM_011522380.1:c.2782C>T	XP_011520682.1:p.Gln928Ter
XM_011522381.1:c.2083C>T	XP_011520683.1:p.Gln695Ter
XM_011522381.2:c.2083C>T	XP_011520683.1:p.Gln695Ter
XM_011522382.1:c.2836C>T	XP_011520684.1:p.Gln946Ter
XM_011522382.3:c.2836C>T	XP_011520684.1:p.Gln946Ter
XM_017022944.1:c.2830C>T	XP_016878433.1:p.Gln944Ter