Canonical Allele Identifier: CA394556261

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310559
• MyVariant Identifiers: chr16:g.3779581T>G (hg19) ; chr16:g.3729580T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729580T>G , CM000678.2:g.3729580T>G	GRCh38
NC_000016.9:g.3779581T>G , CM000678.1:g.3779581T>G	GRCh37
NC_000016.8:g.3719582T>G	NCBI36
NG_009873.1:g.155541A>C
NG_009873.2:g.156134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5467A>C MANE Select	ENSP00000262367.5:p.Ile1823Leu
ENST00000262367.9:c.5467A>C	ENSP00000262367.5:p.Ile1823Leu
ENST00000382070.7:c.5353A>C	ENSP00000371502.3:p.Ile1785Leu
NM_001079846.1:c.5353A>C	NP_001073315.1:p.Ile1785Leu
NM_004380.2:c.5467A>C	NP_004371.2:p.Ile1823Leu
XM_005255124.3:c.5422A>C	XP_005255181.1:p.Ile1808Leu
XM_005255125.3:c.5050A>C	XP_005255182.1:p.Ile1684Leu
XM_006720848.2:c.5206A>C	XP_006720911.1:p.Ile1736Leu
XM_011522380.1:c.5413A>C	XP_011520682.1:p.Ile1805Leu
XM_011522381.1:c.4714A>C	XP_011520683.1:p.Ile1572Leu
XM_005255124.4:c.5422A>C	XP_005255181.1:p.Ile1808Leu
XM_005255125.4:c.5050A>C	XP_005255182.1:p.Ile1684Leu
XM_006720848.3:c.5206A>C	XP_006720911.1:p.Ile1736Leu
XM_011522381.2:c.4714A>C	XP_011520683.1:p.Ile1572Leu
XM_017022944.1:c.5461A>C	XP_016878433.1:p.Ile1821Leu
NM_004380.3:c.5467A>C MANE Select	NP_004371.2:p.Ile1823Leu