Canonical Allele Identifier: CA394565191

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740398C>G , CM000678.2:g.3740398C>G	GRCh38
NC_000016.9:g.3790399C>G , CM000678.1:g.3790399C>G	GRCh37
NC_000016.8:g.3730400C>G	NCBI36
NG_009873.1:g.144723G>C
NG_009873.2:g.145316G>C

Transcript Alleles

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