Canonical Allele Identifier: CA394556449

Gene: CREBBP

Linked Data

• dbSNP Id: rs1488569881
• gnomAD v3: 16-3729621-T-G
• gnomAD v4: 16-3729621-T-G
• MyVariant Identifiers: chr16:g.3779622T>G (hg19) ; chr16:g.3729621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729621T>G , CM000678.2:g.3729621T>G	GRCh38
NC_000016.9:g.3779622T>G , CM000678.1:g.3779622T>G	GRCh37
NC_000016.8:g.3719623T>G	NCBI36
NG_009873.1:g.155500A>C
NG_009873.2:g.156093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5426A>C MANE Select	ENSP00000262367.5:p.Lys1809Thr
ENST00000262367.9:c.5426A>C	ENSP00000262367.5:p.Lys1809Thr
ENST00000382070.7:c.5312A>C	ENSP00000371502.3:p.Lys1771Thr
NM_001079846.1:c.5312A>C	NP_001073315.1:p.Lys1771Thr
NM_004380.2:c.5426A>C	NP_004371.2:p.Lys1809Thr
XM_005255124.3:c.5381A>C	XP_005255181.1:p.Lys1794Thr
XM_005255125.3:c.5009A>C	XP_005255182.1:p.Lys1670Thr
XM_006720848.2:c.5165A>C	XP_006720911.1:p.Lys1722Thr
XM_011522380.1:c.5372A>C	XP_011520682.1:p.Lys1791Thr
XM_011522381.1:c.4673A>C	XP_011520683.1:p.Lys1558Thr
XM_005255124.4:c.5381A>C	XP_005255181.1:p.Lys1794Thr
XM_005255125.4:c.5009A>C	XP_005255182.1:p.Lys1670Thr
XM_006720848.3:c.5165A>C	XP_006720911.1:p.Lys1722Thr
XM_011522381.2:c.4673A>C	XP_011520683.1:p.Lys1558Thr
XM_017022944.1:c.5420A>C	XP_016878433.1:p.Lys1807Thr
NM_004380.3:c.5426A>C MANE Select	NP_004371.2:p.Lys1809Thr