Canonical Allele Identifier: CA394563704

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4478T>C MANE Select	ENSP00000262367.5:p.Ile1493Thr
ENST00000262367.9:c.4478T>C	ENSP00000262367.5:p.Ile1493Thr
ENST00000382070.7:c.4364T>C	ENSP00000371502.3:p.Ile1455Thr
ENST00000570939.2:c.3113T>C	ENSP00000461002.2:p.Ile1038Thr
ENST00000571763.5:n.268T>C
ENST00000574740.1:n.299T>C
ENST00000576720.1:n.3301T>C
NM_001079846.1:c.4364T>C	NP_001073315.1:p.Ile1455Thr
NM_004380.2:c.4478T>C	NP_004371.2:p.Ile1493Thr
XM_005255124.3:c.4433T>C	XP_005255181.1:p.Ile1478Thr
XM_005255125.3:c.4061T>C	XP_005255182.1:p.Ile1354Thr
XM_006720848.2:c.4217T>C	XP_006720911.1:p.Ile1406Thr
XM_011522380.1:c.4424T>C	XP_011520682.1:p.Ile1475Thr
XM_011522381.1:c.3725T>C	XP_011520683.1:p.Ile1242Thr
XM_005255124.4:c.4433T>C	XP_005255181.1:p.Ile1478Thr
XM_005255125.4:c.4061T>C	XP_005255182.1:p.Ile1354Thr
XM_006720848.3:c.4217T>C	XP_006720911.1:p.Ile1406Thr
XM_011522381.2:c.3725T>C	XP_011520683.1:p.Ile1242Thr
XM_017022944.1:c.4472T>C	XP_016878433.1:p.Ile1491Thr
NM_004380.3:c.4478T>C MANE Select	NP_004371.2:p.Ile1493Thr