Canonical Allele Identifier: CA394563492

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329364
• MyVariant Identifiers: chr16:g.3786694A>T (hg19) ; chr16:g.3736693A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736693A>T , CM000678.2:g.3736693A>T	GRCh38
NC_000016.9:g.3786694A>T , CM000678.1:g.3786694A>T	GRCh37
NC_000016.8:g.3726695A>T	NCBI36
NG_009873.1:g.148428T>A
NG_009873.2:g.149021T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4517T>A MANE Select	ENSP00000262367.5:p.Met1506Lys
ENST00000262367.9:c.4517T>A	ENSP00000262367.5:p.Met1506Lys
ENST00000382070.7:c.4403T>A	ENSP00000371502.3:p.Met1468Lys
ENST00000570939.2:c.3152T>A	ENSP00000461002.2:p.Met1051Lys
ENST00000571763.5:n.307T>A
ENST00000574740.1:n.338T>A
ENST00000576720.1:n.3340T>A
NM_001079846.1:c.4403T>A	NP_001073315.1:p.Met1468Lys
NM_004380.2:c.4517T>A	NP_004371.2:p.Met1506Lys
XM_005255124.3:c.4472T>A	XP_005255181.1:p.Met1491Lys
XM_005255125.3:c.4100T>A	XP_005255182.1:p.Met1367Lys
XM_006720848.2:c.4256T>A	XP_006720911.1:p.Met1419Lys
XM_011522380.1:c.4463T>A	XP_011520682.1:p.Met1488Lys
XM_011522381.1:c.3764T>A	XP_011520683.1:p.Met1255Lys
XM_005255124.4:c.4472T>A	XP_005255181.1:p.Met1491Lys
XM_005255125.4:c.4100T>A	XP_005255182.1:p.Met1367Lys
XM_006720848.3:c.4256T>A	XP_006720911.1:p.Met1419Lys
XM_011522381.2:c.3764T>A	XP_011520683.1:p.Met1255Lys
XM_017022944.1:c.4511T>A	XP_016878433.1:p.Met1504Lys
NM_004380.3:c.4517T>A MANE Select	NP_004371.2:p.Met1506Lys