Canonical Allele Identifier: CA394563983

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329964
• COSMIC: COSM88740
• MyVariant Identifiers: chr16:g.3786784G>C (hg19) ; chr16:g.3736783G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736783G>C , CM000678.2:g.3736783G>C	GRCh38
NC_000016.9:g.3786784G>C , CM000678.1:g.3786784G>C	GRCh37
NC_000016.8:g.3726785G>C	NCBI36
NG_009873.1:g.148338C>G
NG_009873.2:g.148931C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4427C>G MANE Select	ENSP00000262367.5:p.Pro1476Arg
ENST00000262367.9:c.4427C>G	ENSP00000262367.5:p.Pro1476Arg
ENST00000382070.7:c.4313C>G	ENSP00000371502.3:p.Pro1438Arg
ENST00000570939.2:c.3062C>G	ENSP00000461002.2:p.Pro1021Arg
ENST00000571763.5:n.217C>G
ENST00000574740.1:n.248C>G
ENST00000576720.1:n.3250C>G
NM_001079846.1:c.4313C>G	NP_001073315.1:p.Pro1438Arg
NM_004380.2:c.4427C>G	NP_004371.2:p.Pro1476Arg
XM_005255124.3:c.4382C>G	XP_005255181.1:p.Pro1461Arg
XM_005255125.3:c.4010C>G	XP_005255182.1:p.Pro1337Arg
XM_006720848.2:c.4166C>G	XP_006720911.1:p.Pro1389Arg
XM_011522380.1:c.4373C>G	XP_011520682.1:p.Pro1458Arg
XM_011522381.1:c.3674C>G	XP_011520683.1:p.Pro1225Arg
XM_005255124.4:c.4382C>G	XP_005255181.1:p.Pro1461Arg
XM_005255125.4:c.4010C>G	XP_005255182.1:p.Pro1337Arg
XM_006720848.3:c.4166C>G	XP_006720911.1:p.Pro1389Arg
XM_011522381.2:c.3674C>G	XP_011520683.1:p.Pro1225Arg
XM_017022944.1:c.4421C>G	XP_016878433.1:p.Pro1474Arg
NM_004380.3:c.4427C>G MANE Select	NP_004371.2:p.Pro1476Arg