Canonical Allele Identifier: CA493279570

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786780A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736779A>G , CM000678.2:g.3736779A>G	GRCh38
NC_000016.9:g.3786780A>G , CM000678.1:g.3786780A>G	GRCh37
NC_000016.8:g.3726781A>G	NCBI36
NG_009873.1:g.148342T>C
NG_009873.2:g.148935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4431T>C MANE Select	ENSP00000262367.5:p.Ser1477=
ENST00000262367.9:c.4431T>C	ENSP00000262367.5:p.Ser1477=
ENST00000382070.7:c.4317T>C	ENSP00000371502.3:p.Ser1439=
ENST00000570939.2:c.3066T>C	ENSP00000461002.2:p.Ser1022=
ENST00000571763.5:n.221T>C
ENST00000574740.1:n.252T>C
ENST00000576720.1:n.3254T>C
NM_001079846.1:c.4317T>C	NP_001073315.1:p.Ser1439=
NM_004380.2:c.4431T>C	NP_004371.2:p.Ser1477=
XM_005255124.3:c.4386T>C	XP_005255181.1:p.Ser1462=
XM_005255125.3:c.4014T>C	XP_005255182.1:p.Ser1338=
XM_006720848.2:c.4170T>C	XP_006720911.1:p.Ser1390=
XM_011522380.1:c.4377T>C	XP_011520682.1:p.Ser1459=
XM_011522381.1:c.3678T>C	XP_011520683.1:p.Ser1226=
XM_005255124.4:c.4386T>C	XP_005255181.1:p.Ser1462=
XM_005255125.4:c.4014T>C	XP_005255182.1:p.Ser1338=
XM_006720848.3:c.4170T>C	XP_006720911.1:p.Ser1390=
XM_011522381.2:c.3678T>C	XP_011520683.1:p.Ser1226=
XM_017022944.1:c.4425T>C	XP_016878433.1:p.Ser1475=
NM_004380.3:c.4431T>C MANE Select	NP_004371.2:p.Ser1477=