Canonical Allele Identifier: CA394551052

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2756692
• ClinVar RCV Id: RCV003593816
• dbSNP Id: rs2151300201
• MyVariant Identifiers: chr16:g.3778089A>G (hg19) ; chr16:g.3728088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728088A>G , CM000678.2:g.3728088A>G	GRCh38
NC_000016.9:g.3778089A>G , CM000678.1:g.3778089A>G	GRCh37
NC_000016.8:g.3718090A>G	NCBI36
NG_009873.1:g.157033T>C
NG_009873.2:g.157626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6959T>C MANE Select	ENSP00000262367.5:p.Met2320Thr
ENST00000262367.9:c.6959T>C	ENSP00000262367.5:p.Met2320Thr
ENST00000382070.7:c.6845T>C	ENSP00000371502.3:p.Met2282Thr
NM_001079846.1:c.6845T>C	NP_001073315.1:p.Met2282Thr
NM_004380.2:c.6959T>C	NP_004371.2:p.Met2320Thr
XM_005255124.3:c.6914T>C	XP_005255181.1:p.Met2305Thr
XM_005255125.3:c.6542T>C	XP_005255182.1:p.Met2181Thr
XM_006720848.2:c.6698T>C	XP_006720911.1:p.Met2233Thr
XM_011522380.1:c.6905T>C	XP_011520682.1:p.Met2302Thr
XM_011522381.1:c.6206T>C	XP_011520683.1:p.Met2069Thr
XM_005255124.4:c.6914T>C	XP_005255181.1:p.Met2305Thr
XM_005255125.4:c.6542T>C	XP_005255182.1:p.Met2181Thr
XM_006720848.3:c.6698T>C	XP_006720911.1:p.Met2233Thr
XM_011522381.2:c.6206T>C	XP_011520683.1:p.Met2069Thr
XM_017022944.1:c.6953T>C	XP_016878433.1:p.Met2318Thr
NM_004380.3:c.6959T>C MANE Select	NP_004371.2:p.Met2320Thr