Canonical Allele Identifier: CA394565482

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151341118
• gnomAD v4: 16-3740528-C-T
• MyVariant Identifiers: chr16:g.3790529C>T (hg19) ; chr16:g.3740528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740528C>T , CM000678.2:g.3740528C>T	GRCh38
NC_000016.9:g.3790529C>T , CM000678.1:g.3790529C>T	GRCh37
NC_000016.8:g.3730530C>T	NCBI36
NG_009873.1:g.144593G>A
NG_009873.2:g.145186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4004G>A MANE Select	ENSP00000262367.5:p.Gly1335Glu
ENST00000262367.9:c.4004G>A	ENSP00000262367.5:p.Gly1335Glu
ENST00000382070.7:c.3890G>A	ENSP00000371502.3:p.Gly1297Glu
ENST00000570939.2:c.2639G>A	ENSP00000461002.2:p.Gly880Glu
ENST00000572569.1:n.468G>A
ENST00000573517.6:c.310G>A
ENST00000574740.1:n.86G>A
ENST00000576720.1:n.2941G>A
NM_001079846.1:c.3890G>A	NP_001073315.1:p.Gly1297Glu
NM_004380.2:c.4004G>A	NP_004371.2:p.Gly1335Glu
XM_005255124.3:c.3959G>A	XP_005255181.1:p.Gly1320Glu
XM_005255125.3:c.3587G>A	XP_005255182.1:p.Gly1196Glu
XM_006720848.2:c.4004G>A	XP_006720911.1:p.Gly1335Glu
XM_011522380.1:c.3950G>A	XP_011520682.1:p.Gly1317Glu
XM_011522381.1:c.3251G>A	XP_011520683.1:p.Gly1084Glu
XM_005255124.4:c.3959G>A	XP_005255181.1:p.Gly1320Glu
XM_005255125.4:c.3587G>A	XP_005255182.1:p.Gly1196Glu
XM_006720848.3:c.4004G>A	XP_006720911.1:p.Gly1335Glu
XM_011522381.2:c.3251G>A	XP_011520683.1:p.Gly1084Glu
XM_017022944.1:c.3998G>A	XP_016878433.1:p.Gly1333Glu
NM_004380.3:c.4004G>A MANE Select	NP_004371.2:p.Gly1335Glu