Canonical Allele Identifier: CA394563519

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786698T>C (hg19) ; chr16:g.3736697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736697T>C , CM000678.2:g.3736697T>C	GRCh38
NC_000016.9:g.3786698T>C , CM000678.1:g.3786698T>C	GRCh37
NC_000016.8:g.3726699T>C	NCBI36
NG_009873.1:g.148424A>G
NG_009873.2:g.149017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4513A>G MANE Select	ENSP00000262367.5:p.Lys1505Glu
ENST00000262367.9:c.4513A>G	ENSP00000262367.5:p.Lys1505Glu
ENST00000382070.7:c.4399A>G	ENSP00000371502.3:p.Lys1467Glu
ENST00000570939.2:c.3148A>G	ENSP00000461002.2:p.Lys1050Glu
ENST00000571763.5:n.303A>G
ENST00000574740.1:n.334A>G
ENST00000576720.1:n.3336A>G
NM_001079846.1:c.4399A>G	NP_001073315.1:p.Lys1467Glu
NM_004380.2:c.4513A>G	NP_004371.2:p.Lys1505Glu
XM_005255124.3:c.4468A>G	XP_005255181.1:p.Lys1490Glu
XM_005255125.3:c.4096A>G	XP_005255182.1:p.Lys1366Glu
XM_006720848.2:c.4252A>G	XP_006720911.1:p.Lys1418Glu
XM_011522380.1:c.4459A>G	XP_011520682.1:p.Lys1487Glu
XM_011522381.1:c.3760A>G	XP_011520683.1:p.Lys1254Glu
XM_005255124.4:c.4468A>G	XP_005255181.1:p.Lys1490Glu
XM_005255125.4:c.4096A>G	XP_005255182.1:p.Lys1366Glu
XM_006720848.3:c.4252A>G	XP_006720911.1:p.Lys1418Glu
XM_011522381.2:c.3760A>G	XP_011520683.1:p.Lys1254Glu
XM_017022944.1:c.4507A>G	XP_016878433.1:p.Lys1503Glu
NM_004380.3:c.4513A>G MANE Select	NP_004371.2:p.Lys1505Glu