Canonical Allele Identifier: CA394563699

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596805747
• MyVariant Identifiers: chr16:g.3786732T>C (hg19) ; chr16:g.3736731T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4479A>G MANE Select	ENSP00000262367.5:p.Ile1493Met
ENST00000262367.9:c.4479A>G	ENSP00000262367.5:p.Ile1493Met
ENST00000382070.7:c.4365A>G	ENSP00000371502.3:p.Ile1455Met
ENST00000570939.2:c.3114A>G	ENSP00000461002.2:p.Ile1038Met
ENST00000571763.5:n.269A>G
ENST00000574740.1:n.300A>G
ENST00000576720.1:n.3302A>G
NM_001079846.1:c.4365A>G	NP_001073315.1:p.Ile1455Met
NM_004380.2:c.4479A>G	NP_004371.2:p.Ile1493Met
XM_005255124.3:c.4434A>G	XP_005255181.1:p.Ile1478Met
XM_005255125.3:c.4062A>G	XP_005255182.1:p.Ile1354Met
XM_006720848.2:c.4218A>G	XP_006720911.1:p.Ile1406Met
XM_011522380.1:c.4425A>G	XP_011520682.1:p.Ile1475Met
XM_011522381.1:c.3726A>G	XP_011520683.1:p.Ile1242Met
XM_005255124.4:c.4434A>G	XP_005255181.1:p.Ile1478Met
XM_005255125.4:c.4062A>G	XP_005255182.1:p.Ile1354Met
XM_006720848.3:c.4218A>G	XP_006720911.1:p.Ile1406Met
XM_011522381.2:c.3726A>G	XP_011520683.1:p.Ile1242Met
XM_017022944.1:c.4473A>G	XP_016878433.1:p.Ile1491Met
NM_004380.3:c.4479A>G MANE Select	NP_004371.2:p.Ile1493Met