Canonical Allele Identifier: CA394551240

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051796968
• MyVariant Identifiers: chr16:g.3778131C>T (hg19) ; chr16:g.3728130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728130C>T , CM000678.2:g.3728130C>T	GRCh38
NC_000016.9:g.3778131C>T , CM000678.1:g.3778131C>T	GRCh37
NC_000016.8:g.3718132C>T	NCBI36
NG_009873.1:g.156991G>A
NG_009873.2:g.157584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6917G>A MANE Select	ENSP00000262367.5:p.Gly2306Glu
ENST00000262367.9:c.6917G>A	ENSP00000262367.5:p.Gly2306Glu
ENST00000382070.7:c.6803G>A	ENSP00000371502.3:p.Gly2268Glu
NM_001079846.1:c.6803G>A	NP_001073315.1:p.Gly2268Glu
NM_004380.2:c.6917G>A	NP_004371.2:p.Gly2306Glu
XM_005255124.3:c.6872G>A	XP_005255181.1:p.Gly2291Glu
XM_005255125.3:c.6500G>A	XP_005255182.1:p.Gly2167Glu
XM_006720848.2:c.6656G>A	XP_006720911.1:p.Gly2219Glu
XM_011522380.1:c.6863G>A	XP_011520682.1:p.Gly2288Glu
XM_011522381.1:c.6164G>A	XP_011520683.1:p.Gly2055Glu
XM_005255124.4:c.6872G>A	XP_005255181.1:p.Gly2291Glu
XM_005255125.4:c.6500G>A	XP_005255182.1:p.Gly2167Glu
XM_006720848.3:c.6656G>A	XP_006720911.1:p.Gly2219Glu
XM_011522381.2:c.6164G>A	XP_011520683.1:p.Gly2055Glu
XM_017022944.1:c.6911G>A	XP_016878433.1:p.Gly2304Glu
NM_004380.3:c.6917G>A MANE Select	NP_004371.2:p.Gly2306Glu