Canonical Allele Identifier: CA394563451

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786685T>G (hg19) ; chr16:g.3736684T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736684T>G , CM000678.2:g.3736684T>G	GRCh38
NC_000016.9:g.3786685T>G , CM000678.1:g.3786685T>G	GRCh37
NC_000016.8:g.3726686T>G	NCBI36
NG_009873.1:g.148437A>C
NG_009873.2:g.149030A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4526A>C MANE Select	ENSP00000262367.5:p.Lys1509Thr
ENST00000262367.9:c.4526A>C	ENSP00000262367.5:p.Lys1509Thr
ENST00000382070.7:c.4412A>C	ENSP00000371502.3:p.Lys1471Thr
ENST00000570939.2:c.3161A>C	ENSP00000461002.2:p.Lys1054Thr
ENST00000571763.5:n.316A>C
ENST00000574740.1:n.347A>C
ENST00000576720.1:n.3349A>C
NM_001079846.1:c.4412A>C	NP_001073315.1:p.Lys1471Thr
NM_004380.2:c.4526A>C	NP_004371.2:p.Lys1509Thr
XM_005255124.3:c.4481A>C	XP_005255181.1:p.Lys1494Thr
XM_005255125.3:c.4109A>C	XP_005255182.1:p.Lys1370Thr
XM_006720848.2:c.4265A>C	XP_006720911.1:p.Lys1422Thr
XM_011522380.1:c.4472A>C	XP_011520682.1:p.Lys1491Thr
XM_011522381.1:c.3773A>C	XP_011520683.1:p.Lys1258Thr
XM_005255124.4:c.4481A>C	XP_005255181.1:p.Lys1494Thr
XM_005255125.4:c.4109A>C	XP_005255182.1:p.Lys1370Thr
XM_006720848.3:c.4265A>C	XP_006720911.1:p.Lys1422Thr
XM_011522381.2:c.3773A>C	XP_011520683.1:p.Lys1258Thr
XM_017022944.1:c.4520A>C	XP_016878433.1:p.Lys1507Thr
NM_004380.3:c.4526A>C MANE Select	NP_004371.2:p.Lys1509Thr