Canonical Allele Identifier: CA394556374

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3780754G>A , CM000678.2:g.3780754G>A	GRCh38
NC_000016.9:g.3830755G>A , CM000678.1:g.3830755G>A	GRCh37
NC_000016.8:g.3770756G>A	NCBI36
NG_009873.1:g.104367C>T
NG_009873.2:g.104960C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.1801C>T MANE Select	NP_004371.2:p.Arg601Trp
ENST00000262367.10:c.1801C>T MANE Select	ENSP00000262367.5:p.Arg601Trp
NM_001079846.1:c.1687C>T	NP_001073315.1:p.Arg563Trp
NM_004380.2:c.1801C>T	NP_004371.2:p.Arg601Trp
ENST00000262367.9:c.1801C>T	ENSP00000262367.5:p.Arg601Trp
ENST00000382070.7:c.1687C>T	ENSP00000371502.3:p.Arg563Trp
ENST00000570939.2:c.406C>T	ENSP00000461002.2:p.Arg136Trp
ENST00000572134.1:c.114C>T
XM_005255124.3:c.1801C>T	XP_005255181.1:p.Arg601Trp
XM_005255124.4:c.1801C>T	XP_005255181.1:p.Arg601Trp
XM_005255125.3:c.1801C>T	XP_005255182.1:p.Arg601Trp
XM_005255125.4:c.1801C>T	XP_005255182.1:p.Arg601Trp
XM_006720848.2:c.1801C>T	XP_006720911.1:p.Arg601Trp
XM_006720848.3:c.1801C>T	XP_006720911.1:p.Arg601Trp
XM_011522380.1:c.1747C>T	XP_011520682.1:p.Arg583Trp
XM_011522381.1:c.1048C>T	XP_011520683.1:p.Arg350Trp
XM_011522381.2:c.1048C>T	XP_011520683.1:p.Arg350Trp
XM_011522382.1:c.1801C>T	XP_011520684.1:p.Arg601Trp
XM_011522382.3:c.1801C>T	XP_011520684.1:p.Arg601Trp
XM_017022944.1:c.1801C>T	XP_016878433.1:p.Arg601Trp