Canonical Allele Identifier: CA7869168

Gene: CREBBP

Linked Data

• dbSNP Id: rs748936007
• ExAC: 16:3778893 C / A
• gnomAD v4: 16-3728892-C-A
• MyVariant Identifiers: chr16:g.3778893C>A (hg19) ; chr16:g.3728892C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728892C>A , CM000678.2:g.3728892C>A	GRCh38
NC_000016.9:g.3778893C>A , CM000678.1:g.3778893C>A	GRCh37
NC_000016.8:g.3718894C>A	NCBI36
NG_009873.1:g.156229G>T
NG_009873.2:g.156822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6155G>T MANE Select	ENSP00000262367.5:p.Arg2052Leu
ENST00000262367.9:c.6155G>T	ENSP00000262367.5:p.Arg2052Leu
ENST00000382070.7:c.6041G>T	ENSP00000371502.3:p.Arg2014Leu
NM_001079846.1:c.6041G>T	NP_001073315.1:p.Arg2014Leu
NM_004380.2:c.6155G>T	NP_004371.2:p.Arg2052Leu
XM_005255124.3:c.6110G>T	XP_005255181.1:p.Arg2037Leu
XM_005255125.3:c.5738G>T	XP_005255182.1:p.Arg1913Leu
XM_006720848.2:c.5894G>T	XP_006720911.1:p.Arg1965Leu
XM_011522380.1:c.6101G>T	XP_011520682.1:p.Arg2034Leu
XM_011522381.1:c.5402G>T	XP_011520683.1:p.Arg1801Leu
XM_005255124.4:c.6110G>T	XP_005255181.1:p.Arg2037Leu
XM_005255125.4:c.5738G>T	XP_005255182.1:p.Arg1913Leu
XM_006720848.3:c.5894G>T	XP_006720911.1:p.Arg1965Leu
XM_011522381.2:c.5402G>T	XP_011520683.1:p.Arg1801Leu
XM_017022944.1:c.6149G>T	XP_016878433.1:p.Arg2050Leu
NM_004380.3:c.6155G>T MANE Select	NP_004371.2:p.Arg2052Leu