Canonical Allele Identifier: CA394557697

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1303132
• ClinVar RCV Id: RCV001756631
• dbSNP Id: rs1064793090
• gnomAD v2: 16-3779844-G-C
• gnomAD v3: 16-3729843-G-C
• gnomAD v4: 16-3729843-G-C
• MyVariant Identifiers: chr16:g.3779844G>C (hg19) ; chr16:g.3729843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729843G>C , CM000678.2:g.3729843G>C	GRCh38
NC_000016.9:g.3779844G>C , CM000678.1:g.3779844G>C	GRCh37
NC_000016.8:g.3719845G>C	NCBI36
NG_009873.1:g.155278C>G
NG_009873.2:g.155871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5204C>G MANE Select	ENSP00000262367.5:p.Thr1735Arg
ENST00000262367.9:c.5204C>G	ENSP00000262367.5:p.Thr1735Arg
ENST00000382070.7:c.5090C>G	ENSP00000371502.3:p.Thr1697Arg
NM_001079846.1:c.5090C>G	NP_001073315.1:p.Thr1697Arg
NM_004380.2:c.5204C>G	NP_004371.2:p.Thr1735Arg
XM_005255124.3:c.5159C>G	XP_005255181.1:p.Thr1720Arg
XM_005255125.3:c.4787C>G	XP_005255182.1:p.Thr1596Arg
XM_006720848.2:c.4943C>G	XP_006720911.1:p.Thr1648Arg
XM_011522380.1:c.5150C>G	XP_011520682.1:p.Thr1717Arg
XM_011522381.1:c.4451C>G	XP_011520683.1:p.Thr1484Arg
XM_005255124.4:c.5159C>G	XP_005255181.1:p.Thr1720Arg
XM_005255125.4:c.4787C>G	XP_005255182.1:p.Thr1596Arg
XM_006720848.3:c.4943C>G	XP_006720911.1:p.Thr1648Arg
XM_011522381.2:c.4451C>G	XP_011520683.1:p.Thr1484Arg
XM_017022944.1:c.5198C>G	XP_016878433.1:p.Thr1733Arg
NM_004380.3:c.5204C>G MANE Select	NP_004371.2:p.Thr1735Arg