Canonical Allele Identifier: CA493394364

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779597C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729596C>G , CM000678.2:g.3729596C>G	GRCh38
NC_000016.9:g.3779597C>G , CM000678.1:g.3779597C>G	GRCh37
NC_000016.8:g.3719598C>G	NCBI36
NG_009873.1:g.155525G>C
NG_009873.2:g.156118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5451G>C MANE Select	ENSP00000262367.5:p.Pro1817=
ENST00000262367.9:c.5451G>C	ENSP00000262367.5:p.Pro1817=
ENST00000382070.7:c.5337G>C	ENSP00000371502.3:p.Pro1779=
NM_001079846.1:c.5337G>C	NP_001073315.1:p.Pro1779=
NM_004380.2:c.5451G>C	NP_004371.2:p.Pro1817=
XM_005255124.3:c.5406G>C	XP_005255181.1:p.Pro1802=
XM_005255125.3:c.5034G>C	XP_005255182.1:p.Pro1678=
XM_006720848.2:c.5190G>C	XP_006720911.1:p.Pro1730=
XM_011522380.1:c.5397G>C	XP_011520682.1:p.Pro1799=
XM_011522381.1:c.4698G>C	XP_011520683.1:p.Pro1566=
XM_005255124.4:c.5406G>C	XP_005255181.1:p.Pro1802=
XM_005255125.4:c.5034G>C	XP_005255182.1:p.Pro1678=
XM_006720848.3:c.5190G>C	XP_006720911.1:p.Pro1730=
XM_011522381.2:c.4698G>C	XP_011520683.1:p.Pro1566=
XM_017022944.1:c.5445G>C	XP_016878433.1:p.Pro1815=
NM_004380.3:c.5451G>C MANE Select	NP_004371.2:p.Pro1817=