Canonical Allele Identifier: CA248675

Gene: CREBBP

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729328C>T , CM000678.2:g.3729328C>T	GRCh38
NC_000016.9:g.3779329C>T , CM000678.1:g.3779329C>T	GRCh37
NC_000016.8:g.3719330C>T	NCBI36
NG_009873.1:g.155793G>A
NG_009873.2:g.156386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5719G>A MANE Select	ENSP00000262367.5:p.Ala1907Thr
ENST00000262367.9:c.5719G>A	ENSP00000262367.5:p.Ala1907Thr
ENST00000382070.7:c.5605G>A	ENSP00000371502.3:p.Ala1869Thr
NM_001079846.1:c.5605G>A	NP_001073315.1:p.Ala1869Thr
NM_004380.2:c.5719G>A	NP_004371.2:p.Ala1907Thr
XM_005255124.3:c.5674G>A	XP_005255181.1:p.Ala1892Thr
XM_005255125.3:c.5302G>A	XP_005255182.1:p.Ala1768Thr
XM_006720848.2:c.5458G>A	XP_006720911.1:p.Ala1820Thr
XM_011522380.1:c.5665G>A	XP_011520682.1:p.Ala1889Thr
XM_011522381.1:c.4966G>A	XP_011520683.1:p.Ala1656Thr
XM_005255124.4:c.5674G>A	XP_005255181.1:p.Ala1892Thr
XM_005255125.4:c.5302G>A	XP_005255182.1:p.Ala1768Thr
XM_006720848.3:c.5458G>A	XP_006720911.1:p.Ala1820Thr
XM_011522381.2:c.4966G>A	XP_011520683.1:p.Ala1656Thr
XM_017022944.1:c.5713G>A	XP_016878433.1:p.Ala1905Thr
NM_004380.3:c.5719G>A MANE Select	NP_004371.2:p.Ala1907Thr