Canonical Allele Identifier: CA394557062

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 521902
• ClinVar RCV Id: RCV000622375 ; RCV000782092
• dbSNP Id: rs1555471394
• gnomAD v3: 16-3729691-G-A
• gnomAD v4: 16-3729691-G-A
• COSMIC: COSM3690997
• MyVariant Identifiers: chr16:g.3779692G>A (hg19) ; chr16:g.3729691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729691G>A , CM000678.2:g.3729691G>A	GRCh38
NC_000016.9:g.3779692G>A , CM000678.1:g.3779692G>A	GRCh37
NC_000016.8:g.3719693G>A	NCBI36
NG_009873.1:g.155430C>T
NG_009873.2:g.156023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5356C>T MANE Select	ENSP00000262367.5:p.Arg1786Cys
ENST00000262367.9:c.5356C>T	ENSP00000262367.5:p.Arg1786Cys
ENST00000382070.7:c.5242C>T	ENSP00000371502.3:p.Arg1748Cys
NM_001079846.1:c.5242C>T	NP_001073315.1:p.Arg1748Cys
NM_004380.2:c.5356C>T	NP_004371.2:p.Arg1786Cys
XM_005255124.3:c.5311C>T	XP_005255181.1:p.Arg1771Cys
XM_005255125.3:c.4939C>T	XP_005255182.1:p.Arg1647Cys
XM_006720848.2:c.5095C>T	XP_006720911.1:p.Arg1699Cys
XM_011522380.1:c.5302C>T	XP_011520682.1:p.Arg1768Cys
XM_011522381.1:c.4603C>T	XP_011520683.1:p.Arg1535Cys
XM_005255124.4:c.5311C>T	XP_005255181.1:p.Arg1771Cys
XM_005255125.4:c.4939C>T	XP_005255182.1:p.Arg1647Cys
XM_006720848.3:c.5095C>T	XP_006720911.1:p.Arg1699Cys
XM_011522381.2:c.4603C>T	XP_011520683.1:p.Arg1535Cys
XM_017022944.1:c.5350C>T	XP_016878433.1:p.Arg1784Cys
NM_004380.3:c.5356C>T MANE Select	NP_004371.2:p.Arg1786Cys