Canonical Allele Identifier: CA394550973

Gene: CREBBP

Linked Data

• dbSNP Id: rs1190871113
• gnomAD v4: 16-3728070-T-A
• MyVariant Identifiers: chr16:g.3778071T>A (hg19) ; chr16:g.3728070T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728070T>A , CM000678.2:g.3728070T>A	GRCh38
NC_000016.9:g.3778071T>A , CM000678.1:g.3778071T>A	GRCh37
NC_000016.8:g.3718072T>A	NCBI36
NG_009873.1:g.157051A>T
NG_009873.2:g.157644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6977A>T MANE Select	ENSP00000262367.5:p.Gln2326Leu
ENST00000262367.9:c.6977A>T	ENSP00000262367.5:p.Gln2326Leu
ENST00000382070.7:c.6863A>T	ENSP00000371502.3:p.Gln2288Leu
NM_001079846.1:c.6863A>T	NP_001073315.1:p.Gln2288Leu
NM_004380.2:c.6977A>T	NP_004371.2:p.Gln2326Leu
XM_005255124.3:c.6932A>T	XP_005255181.1:p.Gln2311Leu
XM_005255125.3:c.6560A>T	XP_005255182.1:p.Gln2187Leu
XM_006720848.2:c.6716A>T	XP_006720911.1:p.Gln2239Leu
XM_011522380.1:c.6923A>T	XP_011520682.1:p.Gln2308Leu
XM_011522381.1:c.6224A>T	XP_011520683.1:p.Gln2075Leu
XM_005255124.4:c.6932A>T	XP_005255181.1:p.Gln2311Leu
XM_005255125.4:c.6560A>T	XP_005255182.1:p.Gln2187Leu
XM_006720848.3:c.6716A>T	XP_006720911.1:p.Gln2239Leu
XM_011522381.2:c.6224A>T	XP_011520683.1:p.Gln2075Leu
XM_017022944.1:c.6971A>T	XP_016878433.1:p.Gln2324Leu
NM_004380.3:c.6977A>T MANE Select	NP_004371.2:p.Gln2326Leu