Canonical Allele Identifier: CA394550804

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596886078
• MyVariant Identifiers: chr16:g.3820672T>A (hg19) ; chr16:g.3770671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770671T>A , CM000678.2:g.3770671T>A	GRCh38
NC_000016.9:g.3820672T>A , CM000678.1:g.3820672T>A	GRCh37
NC_000016.8:g.3760673T>A	NCBI36
NG_009873.1:g.114450A>T
NG_009873.2:g.115043A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2779A>T MANE Select	ENSP00000262367.5:p.Thr927Ser
ENST00000262367.9:c.2779A>T	ENSP00000262367.5:p.Thr927Ser
ENST00000382070.7:c.2665A>T	ENSP00000371502.3:p.Thr889Ser
ENST00000570939.2:c.1384A>T	ENSP00000461002.2:p.Thr462Ser
ENST00000573672.1:n.33A>T
NM_001079846.1:c.2665A>T	NP_001073315.1:p.Thr889Ser
NM_004380.2:c.2779A>T	NP_004371.2:p.Thr927Ser
XM_005255124.3:c.2734A>T	XP_005255181.1:p.Thr912Ser
XM_005255125.3:c.2464-1318A>T	XP_005255182.1:n.2464-1318A>T
XM_006720848.2:c.2779A>T	XP_006720911.1:p.Thr927Ser
XM_011522380.1:c.2725A>T	XP_011520682.1:p.Thr909Ser
XM_011522381.1:c.2026A>T	XP_011520683.1:p.Thr676Ser
XM_011522382.1:c.2779A>T	XP_011520684.1:p.Thr927Ser
XM_005255124.4:c.2734A>T	XP_005255181.1:p.Thr912Ser
XM_005255125.4:c.2464-1318A>T	XP_005255182.1:n.2464-1318A>T
XM_006720848.3:c.2779A>T	XP_006720911.1:p.Thr927Ser
XM_011522381.2:c.2026A>T	XP_011520683.1:p.Thr676Ser
XM_011522382.3:c.2779A>T	XP_011520684.1:p.Thr927Ser
XM_017022944.1:c.2773A>T	XP_016878433.1:p.Thr925Ser
NM_004380.3:c.2779A>T MANE Select	NP_004371.2:p.Thr927Ser