Canonical Allele Identifier: CA394563707

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786733A>C (hg19) ; chr16:g.3736732A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736732A>C , CM000678.2:g.3736732A>C	GRCh38
NC_000016.9:g.3786733A>C , CM000678.1:g.3786733A>C	GRCh37
NC_000016.8:g.3726734A>C	NCBI36
NG_009873.1:g.148389T>G
NG_009873.2:g.148982T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4478T>G MANE Select	ENSP00000262367.5:p.Ile1493Arg
ENST00000262367.9:c.4478T>G	ENSP00000262367.5:p.Ile1493Arg
ENST00000382070.7:c.4364T>G	ENSP00000371502.3:p.Ile1455Arg
ENST00000570939.2:c.3113T>G	ENSP00000461002.2:p.Ile1038Arg
ENST00000571763.5:n.268T>G
ENST00000574740.1:n.299T>G
ENST00000576720.1:n.3301T>G
NM_001079846.1:c.4364T>G	NP_001073315.1:p.Ile1455Arg
NM_004380.2:c.4478T>G	NP_004371.2:p.Ile1493Arg
XM_005255124.3:c.4433T>G	XP_005255181.1:p.Ile1478Arg
XM_005255125.3:c.4061T>G	XP_005255182.1:p.Ile1354Arg
XM_006720848.2:c.4217T>G	XP_006720911.1:p.Ile1406Arg
XM_011522380.1:c.4424T>G	XP_011520682.1:p.Ile1475Arg
XM_011522381.1:c.3725T>G	XP_011520683.1:p.Ile1242Arg
XM_005255124.4:c.4433T>G	XP_005255181.1:p.Ile1478Arg
XM_005255125.4:c.4061T>G	XP_005255182.1:p.Ile1354Arg
XM_006720848.3:c.4217T>G	XP_006720911.1:p.Ile1406Arg
XM_011522381.2:c.3725T>G	XP_011520683.1:p.Ile1242Arg
XM_017022944.1:c.4472T>G	XP_016878433.1:p.Ile1491Arg
NM_004380.3:c.4478T>G MANE Select	NP_004371.2:p.Ile1493Arg