Canonical Allele Identifier: CA271408

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739632A>G , CM000678.2:g.3739632A>G	GRCh38
NC_000016.9:g.3789633A>G , CM000678.1:g.3789633A>G	GRCh37
NC_000016.8:g.3729634A>G	NCBI36
NG_009873.1:g.145489T>C
NG_009873.2:g.146082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4226T>C MANE Select	ENSP00000262367.5:p.Phe1409Ser
ENST00000262367.9:c.4226T>C	ENSP00000262367.5:p.Phe1409Ser
ENST00000382070.7:c.4112T>C	ENSP00000371502.3:p.Phe1371Ser
ENST00000570939.2:c.2861T>C	ENSP00000461002.2:p.Phe954Ser
ENST00000573517.6:c.532T>C
ENST00000574740.1:n.215+767T>C
ENST00000576720.1:n.3163T>C
NM_001079846.1:c.4112T>C	NP_001073315.1:p.Phe1371Ser
NM_004380.2:c.4226T>C	NP_004371.2:p.Phe1409Ser
XM_005255124.3:c.4181T>C	XP_005255181.1:p.Phe1394Ser
XM_005255125.3:c.3809T>C	XP_005255182.1:p.Phe1270Ser
XM_006720848.2:c.4133+767T>C	XP_006720911.1:n.4133+767T>C
XM_011522380.1:c.4172T>C	XP_011520682.1:p.Phe1391Ser
XM_011522381.1:c.3473T>C	XP_011520683.1:p.Phe1158Ser
XM_005255124.4:c.4181T>C	XP_005255181.1:p.Phe1394Ser
XM_005255125.4:c.3809T>C	XP_005255182.1:p.Phe1270Ser
XM_006720848.3:c.4133+767T>C	XP_006720911.1:n.4133+767T>C
XM_011522381.2:c.3473T>C	XP_011520683.1:p.Phe1158Ser
XM_017022944.1:c.4220T>C	XP_016878433.1:p.Phe1407Ser
NM_004380.3:c.4226T>C MANE Select	NP_004371.2:p.Phe1409Ser