Canonical Allele Identifier: CA394554456

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729000-A-G
• MyVariant Identifiers: chr16:g.3779001A>G (hg19) ; chr16:g.3729000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729000A>G , CM000678.2:g.3729000A>G	GRCh38
NC_000016.9:g.3779001A>G , CM000678.1:g.3779001A>G	GRCh37
NC_000016.8:g.3719002A>G	NCBI36
NG_009873.1:g.156121T>C
NG_009873.2:g.156714T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6047T>C MANE Select	ENSP00000262367.5:p.Met2016Thr
ENST00000262367.9:c.6047T>C	ENSP00000262367.5:p.Met2016Thr
ENST00000382070.7:c.5933T>C	ENSP00000371502.3:p.Met1978Thr
NM_001079846.1:c.5933T>C	NP_001073315.1:p.Met1978Thr
NM_004380.2:c.6047T>C	NP_004371.2:p.Met2016Thr
XM_005255124.3:c.6002T>C	XP_005255181.1:p.Met2001Thr
XM_005255125.3:c.5630T>C	XP_005255182.1:p.Met1877Thr
XM_006720848.2:c.5786T>C	XP_006720911.1:p.Met1929Thr
XM_011522380.1:c.5993T>C	XP_011520682.1:p.Met1998Thr
XM_011522381.1:c.5294T>C	XP_011520683.1:p.Met1765Thr
XM_005255124.4:c.6002T>C	XP_005255181.1:p.Met2001Thr
XM_005255125.4:c.5630T>C	XP_005255182.1:p.Met1877Thr
XM_006720848.3:c.5786T>C	XP_006720911.1:p.Met1929Thr
XM_011522381.2:c.5294T>C	XP_011520683.1:p.Met1765Thr
XM_017022944.1:c.6041T>C	XP_016878433.1:p.Met2014Thr
NM_004380.3:c.6047T>C MANE Select	NP_004371.2:p.Met2016Thr