Canonical Allele Identifier: CA394558209

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731244C>T , CM000678.2:g.3731244C>T	GRCh38
NC_000016.9:g.3781245C>T , CM000678.1:g.3781245C>T	GRCh37
NC_000016.8:g.3721246C>T	NCBI36
NG_009873.1:g.153877G>A
NG_009873.2:g.154470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5120G>A MANE Select	ENSP00000262367.5:p.Cys1707Tyr
ENST00000637492.1:c.7G>A
ENST00000262367.9:c.5120G>A	ENSP00000262367.5:p.Cys1707Tyr
ENST00000382070.7:c.5006G>A	ENSP00000371502.3:p.Cys1669Tyr
NM_001079846.1:c.5006G>A	NP_001073315.1:p.Cys1669Tyr
NM_004380.2:c.5120G>A	NP_004371.2:p.Cys1707Tyr
XM_005255124.3:c.5075G>A	XP_005255181.1:p.Cys1692Tyr
XM_005255125.3:c.4703G>A	XP_005255182.1:p.Cys1568Tyr
XM_006720848.2:c.4859G>A	XP_006720911.1:p.Cys1620Tyr
XM_011522380.1:c.5066G>A	XP_011520682.1:p.Cys1689Tyr
XM_011522381.1:c.4367G>A	XP_011520683.1:p.Cys1456Tyr
XM_005255124.4:c.5075G>A	XP_005255181.1:p.Cys1692Tyr
XM_005255125.4:c.4703G>A	XP_005255182.1:p.Cys1568Tyr
XM_006720848.3:c.4859G>A	XP_006720911.1:p.Cys1620Tyr
XM_011522381.2:c.4367G>A	XP_011520683.1:p.Cys1456Tyr
XM_017022944.1:c.5114G>A	XP_016878433.1:p.Cys1705Tyr
NM_004380.3:c.5120G>A MANE Select	NP_004371.2:p.Cys1707Tyr