Canonical Allele Identifier: CA394564911

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739683C>A , CM000678.2:g.3739683C>A	GRCh38
NC_000016.9:g.3789684C>A , CM000678.1:g.3789684C>A	GRCh37
NC_000016.8:g.3729685C>A	NCBI36
NG_009873.1:g.145438G>T
NG_009873.2:g.146031G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4175G>T MANE Select	NP_004371.2:p.Arg1392Leu
ENST00000262367.10:c.4175G>T MANE Select	ENSP00000262367.5:p.Arg1392Leu
NM_001079846.1:c.4061G>T	NP_001073315.1:p.Arg1354Leu
NM_004380.2:c.4175G>T	NP_004371.2:p.Arg1392Leu
ENST00000262367.9:c.4175G>T	ENSP00000262367.5:p.Arg1392Leu
ENST00000382070.7:c.4061G>T	ENSP00000371502.3:p.Arg1354Leu
ENST00000570939.2:c.2810G>T	ENSP00000461002.2:p.Arg937Leu
ENST00000573517.6:c.481G>T
ENST00000574740.1:n.215+716G>T
ENST00000576720.1:n.3112G>T
XM_005255124.3:c.4130G>T	XP_005255181.1:p.Arg1377Leu
XM_005255124.4:c.4130G>T	XP_005255181.1:p.Arg1377Leu
XM_005255125.3:c.3758G>T	XP_005255182.1:p.Arg1253Leu
XM_005255125.4:c.3758G>T	XP_005255182.1:p.Arg1253Leu
XM_006720848.2:c.4133+716G>T	XP_006720911.1:n.4133+716G>T
XM_006720848.3:c.4133+716G>T	XP_006720911.1:n.4133+716G>T
XM_011522380.1:c.4121G>T	XP_011520682.1:p.Arg1374Leu
XM_011522381.1:c.3422G>T	XP_011520683.1:p.Arg1141Leu
XM_011522381.2:c.3422G>T	XP_011520683.1:p.Arg1141Leu
XM_017022944.1:c.4169G>T	XP_016878433.1:p.Arg1390Leu