Canonical Allele Identifier: CA394563731

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786737T>C (hg19) ; chr16:g.3736736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736736T>C , CM000678.2:g.3736736T>C	GRCh38
NC_000016.9:g.3786737T>C , CM000678.1:g.3786737T>C	GRCh37
NC_000016.8:g.3726738T>C	NCBI36
NG_009873.1:g.148385A>G
NG_009873.2:g.148978A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4474A>G MANE Select	ENSP00000262367.5:p.Lys1492Glu
ENST00000262367.9:c.4474A>G	ENSP00000262367.5:p.Lys1492Glu
ENST00000382070.7:c.4360A>G	ENSP00000371502.3:p.Lys1454Glu
ENST00000570939.2:c.3109A>G	ENSP00000461002.2:p.Lys1037Glu
ENST00000571763.5:n.264A>G
ENST00000574740.1:n.295A>G
ENST00000576720.1:n.3297A>G
NM_001079846.1:c.4360A>G	NP_001073315.1:p.Lys1454Glu
NM_004380.2:c.4474A>G	NP_004371.2:p.Lys1492Glu
XM_005255124.3:c.4429A>G	XP_005255181.1:p.Lys1477Glu
XM_005255125.3:c.4057A>G	XP_005255182.1:p.Lys1353Glu
XM_006720848.2:c.4213A>G	XP_006720911.1:p.Lys1405Glu
XM_011522380.1:c.4420A>G	XP_011520682.1:p.Lys1474Glu
XM_011522381.1:c.3721A>G	XP_011520683.1:p.Lys1241Glu
XM_005255124.4:c.4429A>G	XP_005255181.1:p.Lys1477Glu
XM_005255125.4:c.4057A>G	XP_005255182.1:p.Lys1353Glu
XM_006720848.3:c.4213A>G	XP_006720911.1:p.Lys1405Glu
XM_011522381.2:c.3721A>G	XP_011520683.1:p.Lys1241Glu
XM_017022944.1:c.4468A>G	XP_016878433.1:p.Lys1490Glu
NM_004380.3:c.4474A>G MANE Select	NP_004371.2:p.Lys1492Glu