Canonical Allele Identifier: CA394564758

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739615G>A , CM000678.2:g.3739615G>A	GRCh38
NC_000016.9:g.3789616G>A , CM000678.1:g.3789616G>A	GRCh37
NC_000016.8:g.3729617G>A	NCBI36
NG_009873.1:g.145506C>T
NG_009873.2:g.146099C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4243C>T MANE Select	NP_004371.2:p.Gln1415Ter
ENST00000262367.10:c.4243C>T MANE Select	ENSP00000262367.5:p.Gln1415Ter
NM_001079846.1:c.4129C>T	NP_001073315.1:p.Gln1377Ter
NM_004380.2:c.4243C>T	NP_004371.2:p.Gln1415Ter
ENST00000262367.9:c.4243C>T	ENSP00000262367.5:p.Gln1415Ter
ENST00000382070.7:c.4129C>T	ENSP00000371502.3:p.Gln1377Ter
ENST00000570939.2:c.2878C>T	ENSP00000461002.2:p.Gln960Ter
ENST00000573517.6:c.549C>T
ENST00000574740.1:n.215+784C>T
ENST00000576720.1:n.3180C>T
XM_005255124.3:c.4198C>T	XP_005255181.1:p.Gln1400Ter
XM_005255124.4:c.4198C>T	XP_005255181.1:p.Gln1400Ter
XM_005255125.3:c.3826C>T	XP_005255182.1:p.Gln1276Ter
XM_005255125.4:c.3826C>T	XP_005255182.1:p.Gln1276Ter
XM_006720848.2:c.4133+784C>T	XP_006720911.1:n.4133+784C>T
XM_006720848.3:c.4133+784C>T	XP_006720911.1:n.4133+784C>T
XM_011522380.1:c.4189C>T	XP_011520682.1:p.Gln1397Ter
XM_011522381.1:c.3490C>T	XP_011520683.1:p.Gln1164Ter
XM_011522381.2:c.3490C>T	XP_011520683.1:p.Gln1164Ter
XM_017022944.1:c.4237C>T	XP_016878433.1:p.Gln1413Ter