Canonical Allele Identifier: CA394563808

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329734
• COSMIC: COSM220498
• MyVariant Identifiers: chr16:g.3786748G>C (hg19) ; chr16:g.3736747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736747G>C , CM000678.2:g.3736747G>C	GRCh38
NC_000016.9:g.3786748G>C , CM000678.1:g.3786748G>C	GRCh37
NC_000016.8:g.3726749G>C	NCBI36
NG_009873.1:g.148374C>G
NG_009873.2:g.148967C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4463C>G MANE Select	ENSP00000262367.5:p.Pro1488Arg
ENST00000262367.9:c.4463C>G	ENSP00000262367.5:p.Pro1488Arg
ENST00000382070.7:c.4349C>G	ENSP00000371502.3:p.Pro1450Arg
ENST00000570939.2:c.3098C>G	ENSP00000461002.2:p.Pro1033Arg
ENST00000571763.5:n.253C>G
ENST00000574740.1:n.284C>G
ENST00000576720.1:n.3286C>G
NM_001079846.1:c.4349C>G	NP_001073315.1:p.Pro1450Arg
NM_004380.2:c.4463C>G	NP_004371.2:p.Pro1488Arg
XM_005255124.3:c.4418C>G	XP_005255181.1:p.Pro1473Arg
XM_005255125.3:c.4046C>G	XP_005255182.1:p.Pro1349Arg
XM_006720848.2:c.4202C>G	XP_006720911.1:p.Pro1401Arg
XM_011522380.1:c.4409C>G	XP_011520682.1:p.Pro1470Arg
XM_011522381.1:c.3710C>G	XP_011520683.1:p.Pro1237Arg
XM_005255124.4:c.4418C>G	XP_005255181.1:p.Pro1473Arg
XM_005255125.4:c.4046C>G	XP_005255182.1:p.Pro1349Arg
XM_006720848.3:c.4202C>G	XP_006720911.1:p.Pro1401Arg
XM_011522381.2:c.3710C>G	XP_011520683.1:p.Pro1237Arg
XM_017022944.1:c.4457C>G	XP_016878433.1:p.Pro1486Arg
NM_004380.3:c.4463C>G MANE Select	NP_004371.2:p.Pro1488Arg