Canonical Allele Identifier: CA394551536

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141203055
• COSMIC: COSM2920019
• MyVariant Identifiers: chr16:g.3820854A>G (hg19) ; chr16:g.3770853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770853A>G , CM000678.2:g.3770853A>G	GRCh38
NC_000016.9:g.3820854A>G , CM000678.1:g.3820854A>G	GRCh37
NC_000016.8:g.3760855A>G	NCBI36
NG_009873.1:g.114268T>C
NG_009873.2:g.114861T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2597T>C MANE Select	ENSP00000262367.5:p.Met866Thr
ENST00000262367.9:c.2597T>C	ENSP00000262367.5:p.Met866Thr
ENST00000382070.7:c.2483T>C	ENSP00000371502.3:p.Met828Thr
ENST00000570939.2:c.1202T>C	ENSP00000461002.2:p.Met401Thr
NM_001079846.1:c.2483T>C	NP_001073315.1:p.Met828Thr
NM_004380.2:c.2597T>C	NP_004371.2:p.Met866Thr
XM_005255124.3:c.2552T>C	XP_005255181.1:p.Met851Thr
XM_005255125.3:c.2464-1500T>C	XP_005255182.1:n.2464-1500T>C
XM_006720848.2:c.2597T>C	XP_006720911.1:p.Met866Thr
XM_011522380.1:c.2543T>C	XP_011520682.1:p.Met848Thr
XM_011522381.1:c.1844T>C	XP_011520683.1:p.Met615Thr
XM_011522382.1:c.2597T>C	XP_011520684.1:p.Met866Thr
XM_005255124.4:c.2552T>C	XP_005255181.1:p.Met851Thr
XM_005255125.4:c.2464-1500T>C	XP_005255182.1:n.2464-1500T>C
XM_006720848.3:c.2597T>C	XP_006720911.1:p.Met866Thr
XM_011522381.2:c.1844T>C	XP_011520683.1:p.Met615Thr
XM_011522382.3:c.2597T>C	XP_011520684.1:p.Met866Thr
XM_017022944.1:c.2591T>C	XP_016878433.1:p.Met864Thr
NM_004380.3:c.2597T>C MANE Select	NP_004371.2:p.Met866Thr