Canonical Allele Identifier: CA493393686

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305405
• MyVariant Identifiers: chr16:g.3778826C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728825C>G , CM000678.2:g.3728825C>G	GRCh38
NC_000016.9:g.3778826C>G , CM000678.1:g.3778826C>G	GRCh37
NC_000016.8:g.3718827C>G	NCBI36
NG_009873.1:g.156296G>C
NG_009873.2:g.156889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6222G>C MANE Select	ENSP00000262367.5:p.Leu2074=
ENST00000262367.9:c.6222G>C	ENSP00000262367.5:p.Leu2074=
ENST00000382070.7:c.6108G>C	ENSP00000371502.3:p.Leu2036=
NM_001079846.1:c.6108G>C	NP_001073315.1:p.Leu2036=
NM_004380.2:c.6222G>C	NP_004371.2:p.Leu2074=
XM_005255124.3:c.6177G>C	XP_005255181.1:p.Leu2059=
XM_005255125.3:c.5805G>C	XP_005255182.1:p.Leu1935=
XM_006720848.2:c.5961G>C	XP_006720911.1:p.Leu1987=
XM_011522380.1:c.6168G>C	XP_011520682.1:p.Leu2056=
XM_011522381.1:c.5469G>C	XP_011520683.1:p.Leu1823=
XM_005255124.4:c.6177G>C	XP_005255181.1:p.Leu2059=
XM_005255125.4:c.5805G>C	XP_005255182.1:p.Leu1935=
XM_006720848.3:c.5961G>C	XP_006720911.1:p.Leu1987=
XM_011522381.2:c.5469G>C	XP_011520683.1:p.Leu1823=
XM_017022944.1:c.6216G>C	XP_016878433.1:p.Leu2072=
NM_004380.3:c.6222G>C MANE Select	NP_004371.2:p.Leu2074=