Canonical Allele Identifier: CA394551459

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141202776
• gnomAD v4: 16-3770836-T-C
• MyVariant Identifiers: chr16:g.3820837T>C (hg19) ; chr16:g.3770836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770836T>C , CM000678.2:g.3770836T>C	GRCh38
NC_000016.9:g.3820837T>C , CM000678.1:g.3820837T>C	GRCh37
NC_000016.8:g.3760838T>C	NCBI36
NG_009873.1:g.114285A>G
NG_009873.2:g.114878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2614A>G MANE Select	ENSP00000262367.5:p.Thr872Ala
ENST00000262367.9:c.2614A>G	ENSP00000262367.5:p.Thr872Ala
ENST00000382070.7:c.2500A>G	ENSP00000371502.3:p.Thr834Ala
ENST00000570939.2:c.1219A>G	ENSP00000461002.2:p.Thr407Ala
NM_001079846.1:c.2500A>G	NP_001073315.1:p.Thr834Ala
NM_004380.2:c.2614A>G	NP_004371.2:p.Thr872Ala
XM_005255124.3:c.2569A>G	XP_005255181.1:p.Thr857Ala
XM_005255125.3:c.2464-1483A>G	XP_005255182.1:n.2464-1483A>G
XM_006720848.2:c.2614A>G	XP_006720911.1:p.Thr872Ala
XM_011522380.1:c.2560A>G	XP_011520682.1:p.Thr854Ala
XM_011522381.1:c.1861A>G	XP_011520683.1:p.Thr621Ala
XM_011522382.1:c.2614A>G	XP_011520684.1:p.Thr872Ala
XM_005255124.4:c.2569A>G	XP_005255181.1:p.Thr857Ala
XM_005255125.4:c.2464-1483A>G	XP_005255182.1:n.2464-1483A>G
XM_006720848.3:c.2614A>G	XP_006720911.1:p.Thr872Ala
XM_011522381.2:c.1861A>G	XP_011520683.1:p.Thr621Ala
XM_011522382.3:c.2614A>G	XP_011520684.1:p.Thr872Ala
XM_017022944.1:c.2608A>G	XP_016878433.1:p.Thr870Ala
NM_004380.3:c.2614A>G MANE Select	NP_004371.2:p.Thr872Ala