Canonical Allele Identifier: CA394551083

Gene: CREBBP

Linked Data

• dbSNP Id: rs760140366
• MyVariant Identifiers: chr16:g.3778095T>A (hg19) ; chr16:g.3728094T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728094T>A , CM000678.2:g.3728094T>A	GRCh38
NC_000016.9:g.3778095T>A , CM000678.1:g.3778095T>A	GRCh37
NC_000016.8:g.3718096T>A	NCBI36
NG_009873.1:g.157027A>T
NG_009873.2:g.157620A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6953A>T MANE Select	ENSP00000262367.5:p.Gln2318Leu
ENST00000262367.9:c.6953A>T	ENSP00000262367.5:p.Gln2318Leu
ENST00000382070.7:c.6839A>T	ENSP00000371502.3:p.Gln2280Leu
NM_001079846.1:c.6839A>T	NP_001073315.1:p.Gln2280Leu
NM_004380.2:c.6953A>T	NP_004371.2:p.Gln2318Leu
XM_005255124.3:c.6908A>T	XP_005255181.1:p.Gln2303Leu
XM_005255125.3:c.6536A>T	XP_005255182.1:p.Gln2179Leu
XM_006720848.2:c.6692A>T	XP_006720911.1:p.Gln2231Leu
XM_011522380.1:c.6899A>T	XP_011520682.1:p.Gln2300Leu
XM_011522381.1:c.6200A>T	XP_011520683.1:p.Gln2067Leu
XM_005255124.4:c.6908A>T	XP_005255181.1:p.Gln2303Leu
XM_005255125.4:c.6536A>T	XP_005255182.1:p.Gln2179Leu
XM_006720848.3:c.6692A>T	XP_006720911.1:p.Gln2231Leu
XM_011522381.2:c.6200A>T	XP_011520683.1:p.Gln2067Leu
XM_017022944.1:c.6947A>T	XP_016878433.1:p.Gln2316Leu
NM_004380.3:c.6953A>T MANE Select	NP_004371.2:p.Gln2318Leu