Canonical Allele Identifier: CA394551019

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770722T>G , CM000678.2:g.3770722T>G	GRCh38
NC_000016.9:g.3820723T>G , CM000678.1:g.3820723T>G	GRCh37
NC_000016.8:g.3760724T>G	NCBI36
NG_009873.1:g.114399A>C
NG_009873.2:g.114992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2728A>C MANE Select	ENSP00000262367.5:p.Thr910Pro
ENST00000262367.9:c.2728A>C	ENSP00000262367.5:p.Thr910Pro
ENST00000382070.7:c.2614A>C	ENSP00000371502.3:p.Thr872Pro
ENST00000570939.2:c.1333A>C	ENSP00000461002.2:p.Thr445Pro
NM_001079846.1:c.2614A>C	NP_001073315.1:p.Thr872Pro
NM_004380.2:c.2728A>C	NP_004371.2:p.Thr910Pro
XM_005255124.3:c.2683A>C	XP_005255181.1:p.Thr895Pro
XM_005255125.3:c.2464-1369A>C	XP_005255182.1:n.2464-1369A>C
XM_006720848.2:c.2728A>C	XP_006720911.1:p.Thr910Pro
XM_011522380.1:c.2674A>C	XP_011520682.1:p.Thr892Pro
XM_011522381.1:c.1975A>C	XP_011520683.1:p.Thr659Pro
XM_011522382.1:c.2728A>C	XP_011520684.1:p.Thr910Pro
XM_005255124.4:c.2683A>C	XP_005255181.1:p.Thr895Pro
XM_005255125.4:c.2464-1369A>C	XP_005255182.1:n.2464-1369A>C
XM_006720848.3:c.2728A>C	XP_006720911.1:p.Thr910Pro
XM_011522381.2:c.1975A>C	XP_011520683.1:p.Thr659Pro
XM_011522382.3:c.2728A>C	XP_011520684.1:p.Thr910Pro
XM_017022944.1:c.2722A>C	XP_016878433.1:p.Thr908Pro
NM_004380.3:c.2728A>C MANE Select	NP_004371.2:p.Thr910Pro