Canonical Allele Identifier: CA394563702

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736732-A-T
• COSMIC: COSM5656310
• MyVariant Identifiers: chr16:g.3786733A>T (hg19) ; chr16:g.3736732A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4478T>A MANE Select	ENSP00000262367.5:p.Ile1493Lys
ENST00000262367.9:c.4478T>A	ENSP00000262367.5:p.Ile1493Lys
ENST00000382070.7:c.4364T>A	ENSP00000371502.3:p.Ile1455Lys
ENST00000570939.2:c.3113T>A	ENSP00000461002.2:p.Ile1038Lys
ENST00000571763.5:n.268T>A
ENST00000574740.1:n.299T>A
ENST00000576720.1:n.3301T>A
NM_001079846.1:c.4364T>A	NP_001073315.1:p.Ile1455Lys
NM_004380.2:c.4478T>A	NP_004371.2:p.Ile1493Lys
XM_005255124.3:c.4433T>A	XP_005255181.1:p.Ile1478Lys
XM_005255125.3:c.4061T>A	XP_005255182.1:p.Ile1354Lys
XM_006720848.2:c.4217T>A	XP_006720911.1:p.Ile1406Lys
XM_011522380.1:c.4424T>A	XP_011520682.1:p.Ile1475Lys
XM_011522381.1:c.3725T>A	XP_011520683.1:p.Ile1242Lys
XM_005255124.4:c.4433T>A	XP_005255181.1:p.Ile1478Lys
XM_005255125.4:c.4061T>A	XP_005255182.1:p.Ile1354Lys
XM_006720848.3:c.4217T>A	XP_006720911.1:p.Ile1406Lys
XM_011522381.2:c.3725T>A	XP_011520683.1:p.Ile1242Lys
XM_017022944.1:c.4472T>A	XP_016878433.1:p.Ile1491Lys
NM_004380.3:c.4478T>A MANE Select	NP_004371.2:p.Ile1493Lys