Canonical Allele Identifier: CA394563408

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786678A>C (hg19) ; chr16:g.3736677A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736677A>C , CM000678.2:g.3736677A>C	GRCh38
NC_000016.9:g.3786678A>C , CM000678.1:g.3786678A>C	GRCh37
NC_000016.8:g.3726679A>C	NCBI36
NG_009873.1:g.148444T>G
NG_009873.2:g.149037T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4533T>G MANE Select	ENSP00000262367.5:p.Phe1511Leu
ENST00000262367.9:c.4533T>G	ENSP00000262367.5:p.Phe1511Leu
ENST00000382070.7:c.4419T>G	ENSP00000371502.3:p.Phe1473Leu
ENST00000570939.2:c.3168T>G	ENSP00000461002.2:p.Phe1056Leu
ENST00000571763.5:n.323T>G
ENST00000574740.1:n.354T>G
ENST00000576720.1:n.3356T>G
NM_001079846.1:c.4419T>G	NP_001073315.1:p.Phe1473Leu
NM_004380.2:c.4533T>G	NP_004371.2:p.Phe1511Leu
XM_005255124.3:c.4488T>G	XP_005255181.1:p.Phe1496Leu
XM_005255125.3:c.4116T>G	XP_005255182.1:p.Phe1372Leu
XM_006720848.2:c.4272T>G	XP_006720911.1:p.Phe1424Leu
XM_011522380.1:c.4479T>G	XP_011520682.1:p.Phe1493Leu
XM_011522381.1:c.3780T>G	XP_011520683.1:p.Phe1260Leu
XM_005255124.4:c.4488T>G	XP_005255181.1:p.Phe1496Leu
XM_005255125.4:c.4116T>G	XP_005255182.1:p.Phe1372Leu
XM_006720848.3:c.4272T>G	XP_006720911.1:p.Phe1424Leu
XM_011522381.2:c.3780T>G	XP_011520683.1:p.Phe1260Leu
XM_017022944.1:c.4527T>G	XP_016878433.1:p.Phe1509Leu
NM_004380.3:c.4533T>G MANE Select	NP_004371.2:p.Phe1511Leu