Canonical Allele Identifier: CA254813

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740399C>G , CM000678.2:g.3740399C>G	GRCh38
NC_000016.9:g.3790400C>G , CM000678.1:g.3790400C>G	GRCh37
NC_000016.8:g.3730401C>G	NCBI36
NG_009873.1:g.144722G>C
NG_009873.2:g.145315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133G>C MANE Select	ENSP00000262367.5:p.Arg1378Pro
ENST00000262367.9:c.4133G>C	ENSP00000262367.5:p.Arg1378Pro
ENST00000382070.7:c.4019G>C	ENSP00000371502.3:p.Arg1340Pro
ENST00000570939.2:c.2768G>C	ENSP00000461002.2:p.Arg923Pro
ENST00000573517.6:c.439G>C
ENST00000574740.1:n.215G>C
ENST00000576720.1:n.3070G>C
NM_001079846.1:c.4019G>C	NP_001073315.1:p.Arg1340Pro
NM_004380.2:c.4133G>C	NP_004371.2:p.Arg1378Pro
XM_005255124.3:c.4088G>C	XP_005255181.1:p.Arg1363Pro
XM_005255125.3:c.3716G>C	XP_005255182.1:p.Arg1239Pro
XM_006720848.2:c.4133G>C	XP_006720911.1:p.Arg1378Pro
XM_011522380.1:c.4079G>C	XP_011520682.1:p.Arg1360Pro
XM_011522381.1:c.3380G>C	XP_011520683.1:p.Arg1127Pro
XM_005255124.4:c.4088G>C	XP_005255181.1:p.Arg1363Pro
XM_005255125.4:c.3716G>C	XP_005255182.1:p.Arg1239Pro
XM_006720848.3:c.4133G>C	XP_006720911.1:p.Arg1378Pro
XM_011522381.2:c.3380G>C	XP_011520683.1:p.Arg1127Pro
XM_017022944.1:c.4127G>C	XP_016878433.1:p.Arg1376Pro
NM_004380.3:c.4133G>C MANE Select	NP_004371.2:p.Arg1378Pro