Canonical Allele Identifier: CA394556245

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310513
• gnomAD v4: 16-3729574-G-A
• MyVariant Identifiers: chr16:g.3779575G>A (hg19) ; chr16:g.3729574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729574G>A , CM000678.2:g.3729574G>A	GRCh38
NC_000016.9:g.3779575G>A , CM000678.1:g.3779575G>A	GRCh37
NC_000016.8:g.3719576G>A	NCBI36
NG_009873.1:g.155547C>T
NG_009873.2:g.156140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5473C>T MANE Select	ENSP00000262367.5:p.Leu1825Phe
ENST00000262367.9:c.5473C>T	ENSP00000262367.5:p.Leu1825Phe
ENST00000382070.7:c.5359C>T	ENSP00000371502.3:p.Leu1787Phe
NM_001079846.1:c.5359C>T	NP_001073315.1:p.Leu1787Phe
NM_004380.2:c.5473C>T	NP_004371.2:p.Leu1825Phe
XM_005255124.3:c.5428C>T	XP_005255181.1:p.Leu1810Phe
XM_005255125.3:c.5056C>T	XP_005255182.1:p.Leu1686Phe
XM_006720848.2:c.5212C>T	XP_006720911.1:p.Leu1738Phe
XM_011522380.1:c.5419C>T	XP_011520682.1:p.Leu1807Phe
XM_011522381.1:c.4720C>T	XP_011520683.1:p.Leu1574Phe
XM_005255124.4:c.5428C>T	XP_005255181.1:p.Leu1810Phe
XM_005255125.4:c.5056C>T	XP_005255182.1:p.Leu1686Phe
XM_006720848.3:c.5212C>T	XP_006720911.1:p.Leu1738Phe
XM_011522381.2:c.4720C>T	XP_011520683.1:p.Leu1574Phe
XM_017022944.1:c.5467C>T	XP_016878433.1:p.Leu1823Phe
NM_004380.3:c.5473C>T MANE Select	NP_004371.2:p.Leu1825Phe