Canonical Allele Identifier: CA394551727

Gene: CREBBP

Linked Data

• dbSNP Id: rs1461699733
• MyVariant Identifiers: chr16:g.3820906T>C (hg19) ; chr16:g.3770905T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770905T>C , CM000678.2:g.3770905T>C	GRCh38
NC_000016.9:g.3820906T>C , CM000678.1:g.3820906T>C	GRCh37
NC_000016.8:g.3760907T>C	NCBI36
NG_009873.1:g.114216A>G
NG_009873.2:g.114809A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2545A>G MANE Select	ENSP00000262367.5:p.Thr849Ala
ENST00000262367.9:c.2545A>G	ENSP00000262367.5:p.Thr849Ala
ENST00000382070.7:c.2431A>G	ENSP00000371502.3:p.Thr811Ala
ENST00000570939.2:c.1150A>G	ENSP00000461002.2:p.Thr384Ala
NM_001079846.1:c.2431A>G	NP_001073315.1:p.Thr811Ala
NM_004380.2:c.2545A>G	NP_004371.2:p.Thr849Ala
XM_005255124.3:c.2500A>G	XP_005255181.1:p.Thr834Ala
XM_005255125.3:c.2464-1552A>G	XP_005255182.1:n.2464-1552A>G
XM_006720848.2:c.2545A>G	XP_006720911.1:p.Thr849Ala
XM_011522380.1:c.2491A>G	XP_011520682.1:p.Thr831Ala
XM_011522381.1:c.1792A>G	XP_011520683.1:p.Thr598Ala
XM_011522382.1:c.2545A>G	XP_011520684.1:p.Thr849Ala
XM_005255124.4:c.2500A>G	XP_005255181.1:p.Thr834Ala
XM_005255125.4:c.2464-1552A>G	XP_005255182.1:n.2464-1552A>G
XM_006720848.3:c.2545A>G	XP_006720911.1:p.Thr849Ala
XM_011522381.2:c.1792A>G	XP_011520683.1:p.Thr598Ala
XM_011522382.3:c.2545A>G	XP_011520684.1:p.Thr849Ala
XM_017022944.1:c.2539A>G	XP_016878433.1:p.Thr847Ala
NM_004380.3:c.2545A>G MANE Select	NP_004371.2:p.Thr849Ala