Canonical Allele Identifier: CA394563735

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4474A>C MANE Select	ENSP00000262367.5:p.Lys1492Gln
ENST00000262367.9:c.4474A>C	ENSP00000262367.5:p.Lys1492Gln
ENST00000382070.7:c.4360A>C	ENSP00000371502.3:p.Lys1454Gln
ENST00000570939.2:c.3109A>C	ENSP00000461002.2:p.Lys1037Gln
ENST00000571763.5:n.264A>C
ENST00000574740.1:n.295A>C
ENST00000576720.1:n.3297A>C
NM_001079846.1:c.4360A>C	NP_001073315.1:p.Lys1454Gln
NM_004380.2:c.4474A>C	NP_004371.2:p.Lys1492Gln
XM_005255124.3:c.4429A>C	XP_005255181.1:p.Lys1477Gln
XM_005255125.3:c.4057A>C	XP_005255182.1:p.Lys1353Gln
XM_006720848.2:c.4213A>C	XP_006720911.1:p.Lys1405Gln
XM_011522380.1:c.4420A>C	XP_011520682.1:p.Lys1474Gln
XM_011522381.1:c.3721A>C	XP_011520683.1:p.Lys1241Gln
XM_005255124.4:c.4429A>C	XP_005255181.1:p.Lys1477Gln
XM_005255125.4:c.4057A>C	XP_005255182.1:p.Lys1353Gln
XM_006720848.3:c.4213A>C	XP_006720911.1:p.Lys1405Gln
XM_011522381.2:c.3721A>C	XP_011520683.1:p.Lys1241Gln
XM_017022944.1:c.4468A>C	XP_016878433.1:p.Lys1490Gln
NM_004380.3:c.4474A>C MANE Select	NP_004371.2:p.Lys1492Gln