Canonical Allele Identifier: CA394556209

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1309234
• ClinVar RCV Id: RCV001765403 ; RCV002343826
• dbSNP Id: rs2151310426
• MyVariant Identifiers: chr16:g.3779560C>T (hg19) ; chr16:g.3729559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729559C>T , CM000678.2:g.3729559C>T	GRCh38
NC_000016.9:g.3779560C>T , CM000678.1:g.3779560C>T	GRCh37
NC_000016.8:g.3719561C>T	NCBI36
NG_009873.1:g.155562G>A
NG_009873.2:g.156155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5488G>A MANE Select	ENSP00000262367.5:p.Ala1830Thr
ENST00000262367.9:c.5488G>A	ENSP00000262367.5:p.Ala1830Thr
ENST00000382070.7:c.5374G>A	ENSP00000371502.3:p.Ala1792Thr
NM_001079846.1:c.5374G>A	NP_001073315.1:p.Ala1792Thr
NM_004380.2:c.5488G>A	NP_004371.2:p.Ala1830Thr
XM_005255124.3:c.5443G>A	XP_005255181.1:p.Ala1815Thr
XM_005255125.3:c.5071G>A	XP_005255182.1:p.Ala1691Thr
XM_006720848.2:c.5227G>A	XP_006720911.1:p.Ala1743Thr
XM_011522380.1:c.5434G>A	XP_011520682.1:p.Ala1812Thr
XM_011522381.1:c.4735G>A	XP_011520683.1:p.Ala1579Thr
XM_005255124.4:c.5443G>A	XP_005255181.1:p.Ala1815Thr
XM_005255125.4:c.5071G>A	XP_005255182.1:p.Ala1691Thr
XM_006720848.3:c.5227G>A	XP_006720911.1:p.Ala1743Thr
XM_011522381.2:c.4735G>A	XP_011520683.1:p.Ala1579Thr
XM_017022944.1:c.5482G>A	XP_016878433.1:p.Ala1828Thr
NM_004380.3:c.5488G>A MANE Select	NP_004371.2:p.Ala1830Thr