Canonical Allele Identifier: CA394555053

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307450
• gnomAD v4: 16-3729150-G-A
• MyVariant Identifiers: chr16:g.3779151G>A (hg19) ; chr16:g.3729150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729150G>A , CM000678.2:g.3729150G>A	GRCh38
NC_000016.9:g.3779151G>A , CM000678.1:g.3779151G>A	GRCh37
NC_000016.8:g.3719152G>A	NCBI36
NG_009873.1:g.155971C>T
NG_009873.2:g.156564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5897C>T MANE Select	ENSP00000262367.5:p.Ala1966Val
ENST00000262367.9:c.5897C>T	ENSP00000262367.5:p.Ala1966Val
ENST00000382070.7:c.5783C>T	ENSP00000371502.3:p.Ala1928Val
NM_001079846.1:c.5783C>T	NP_001073315.1:p.Ala1928Val
NM_004380.2:c.5897C>T	NP_004371.2:p.Ala1966Val
XM_005255124.3:c.5852C>T	XP_005255181.1:p.Ala1951Val
XM_005255125.3:c.5480C>T	XP_005255182.1:p.Ala1827Val
XM_006720848.2:c.5636C>T	XP_006720911.1:p.Ala1879Val
XM_011522380.1:c.5843C>T	XP_011520682.1:p.Ala1948Val
XM_011522381.1:c.5144C>T	XP_011520683.1:p.Ala1715Val
XM_005255124.4:c.5852C>T	XP_005255181.1:p.Ala1951Val
XM_005255125.4:c.5480C>T	XP_005255182.1:p.Ala1827Val
XM_006720848.3:c.5636C>T	XP_006720911.1:p.Ala1879Val
XM_011522381.2:c.5144C>T	XP_011520683.1:p.Ala1715Val
XM_017022944.1:c.5891C>T	XP_016878433.1:p.Ala1964Val
NM_004380.3:c.5897C>T MANE Select	NP_004371.2:p.Ala1966Val