Canonical Allele Identifier: CA394563714

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786734T>G (hg19) ; chr16:g.3736733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736733T>G , CM000678.2:g.3736733T>G	GRCh38
NC_000016.9:g.3786734T>G , CM000678.1:g.3786734T>G	GRCh37
NC_000016.8:g.3726735T>G	NCBI36
NG_009873.1:g.148388A>C
NG_009873.2:g.148981A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4477A>C MANE Select	ENSP00000262367.5:p.Ile1493Leu
ENST00000262367.9:c.4477A>C	ENSP00000262367.5:p.Ile1493Leu
ENST00000382070.7:c.4363A>C	ENSP00000371502.3:p.Ile1455Leu
ENST00000570939.2:c.3112A>C	ENSP00000461002.2:p.Ile1038Leu
ENST00000571763.5:n.267A>C
ENST00000574740.1:n.298A>C
ENST00000576720.1:n.3300A>C
NM_001079846.1:c.4363A>C	NP_001073315.1:p.Ile1455Leu
NM_004380.2:c.4477A>C	NP_004371.2:p.Ile1493Leu
XM_005255124.3:c.4432A>C	XP_005255181.1:p.Ile1478Leu
XM_005255125.3:c.4060A>C	XP_005255182.1:p.Ile1354Leu
XM_006720848.2:c.4216A>C	XP_006720911.1:p.Ile1406Leu
XM_011522380.1:c.4423A>C	XP_011520682.1:p.Ile1475Leu
XM_011522381.1:c.3724A>C	XP_011520683.1:p.Ile1242Leu
XM_005255124.4:c.4432A>C	XP_005255181.1:p.Ile1478Leu
XM_005255125.4:c.4060A>C	XP_005255182.1:p.Ile1354Leu
XM_006720848.3:c.4216A>C	XP_006720911.1:p.Ile1406Leu
XM_011522381.2:c.3724A>C	XP_011520683.1:p.Ile1242Leu
XM_017022944.1:c.4471A>C	XP_016878433.1:p.Ile1491Leu
NM_004380.3:c.4477A>C MANE Select	NP_004371.2:p.Ile1493Leu