Canonical Allele Identifier: CA493393530

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778079T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728078T>G , CM000678.2:g.3728078T>G	GRCh38
NC_000016.9:g.3778079T>G , CM000678.1:g.3778079T>G	GRCh37
NC_000016.8:g.3718080T>G	NCBI36
NG_009873.1:g.157043A>C
NG_009873.2:g.157636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6969A>C MANE Select	ENSP00000262367.5:p.Gly2323=
ENST00000262367.9:c.6969A>C	ENSP00000262367.5:p.Gly2323=
ENST00000382070.7:c.6855A>C	ENSP00000371502.3:p.Gly2285=
NM_001079846.1:c.6855A>C	NP_001073315.1:p.Gly2285=
NM_004380.2:c.6969A>C	NP_004371.2:p.Gly2323=
XM_005255124.3:c.6924A>C	XP_005255181.1:p.Gly2308=
XM_005255125.3:c.6552A>C	XP_005255182.1:p.Gly2184=
XM_006720848.2:c.6708A>C	XP_006720911.1:p.Gly2236=
XM_011522380.1:c.6915A>C	XP_011520682.1:p.Gly2305=
XM_011522381.1:c.6216A>C	XP_011520683.1:p.Gly2072=
XM_005255124.4:c.6924A>C	XP_005255181.1:p.Gly2308=
XM_005255125.4:c.6552A>C	XP_005255182.1:p.Gly2184=
XM_006720848.3:c.6708A>C	XP_006720911.1:p.Gly2236=
XM_011522381.2:c.6216A>C	XP_011520683.1:p.Gly2072=
XM_017022944.1:c.6963A>C	XP_016878433.1:p.Gly2321=
NM_004380.3:c.6969A>C MANE Select	NP_004371.2:p.Gly2323=