Canonical Allele Identifier: CA493279380

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596805747
• gnomAD v4: 16-3736731-T-G
• MyVariant Identifiers: chr16:g.3786732T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736731T>G , CM000678.2:g.3736731T>G	GRCh38
NC_000016.9:g.3786732T>G , CM000678.1:g.3786732T>G	GRCh37
NC_000016.8:g.3726733T>G	NCBI36
NG_009873.1:g.148390A>C
NG_009873.2:g.148983A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4479A>C MANE Select	ENSP00000262367.5:p.Ile1493=
ENST00000262367.9:c.4479A>C	ENSP00000262367.5:p.Ile1493=
ENST00000382070.7:c.4365A>C	ENSP00000371502.3:p.Ile1455=
ENST00000570939.2:c.3114A>C	ENSP00000461002.2:p.Ile1038=
ENST00000571763.5:n.269A>C
ENST00000574740.1:n.300A>C
ENST00000576720.1:n.3302A>C
NM_001079846.1:c.4365A>C	NP_001073315.1:p.Ile1455=
NM_004380.2:c.4479A>C	NP_004371.2:p.Ile1493=
XM_005255124.3:c.4434A>C	XP_005255181.1:p.Ile1478=
XM_005255125.3:c.4062A>C	XP_005255182.1:p.Ile1354=
XM_006720848.2:c.4218A>C	XP_006720911.1:p.Ile1406=
XM_011522380.1:c.4425A>C	XP_011520682.1:p.Ile1475=
XM_011522381.1:c.3726A>C	XP_011520683.1:p.Ile1242=
XM_005255124.4:c.4434A>C	XP_005255181.1:p.Ile1478=
XM_005255125.4:c.4062A>C	XP_005255182.1:p.Ile1354=
XM_006720848.3:c.4218A>C	XP_006720911.1:p.Ile1406=
XM_011522381.2:c.3726A>C	XP_011520683.1:p.Ile1242=
XM_017022944.1:c.4473A>C	XP_016878433.1:p.Ile1491=
NM_004380.3:c.4479A>C MANE Select	NP_004371.2:p.Ile1493=