Canonical Allele Identifier: CA7869837

Gene: CREBBP

Linked Data

• dbSNP Id: rs755287637
• ExAC: 16:3808809 A / G
• gnomAD v2: 16-3808809-A-G
• gnomAD v4: 16-3758808-A-G
• MyVariant Identifiers: chr16:g.3808809A>G (hg19) ; chr16:g.3758808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758808A>G , CM000678.2:g.3758808A>G	GRCh38
NC_000016.9:g.3808809A>G , CM000678.1:g.3808809A>G	GRCh37
NC_000016.8:g.3748810A>G	NCBI36
NG_009873.1:g.126313T>C
NG_009873.2:g.126906T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3369+46T>C MANE Select	ENSP00000262367.5:n.3369+46T>C
ENST00000262367.9:c.3369+46T>C	ENSP00000262367.5:n.3369+46T>C
ENST00000382070.7:c.3255+46T>C	ENSP00000371502.3:n.3255+46T>C
ENST00000570939.2:c.1974+46T>C	ENSP00000461002.2:n.1974+46T>C
NM_001079846.1:c.3255+46T>C	NP_001073315.1:n.3255+46T>C
NM_004380.2:c.3369+46T>C	NP_004371.2:n.3369+46T>C
XM_005255124.3:c.3324+46T>C	XP_005255181.1:n.3324+46T>C
XM_005255125.3:c.2952+46T>C	XP_005255182.1:n.2952+46T>C
XM_006720848.2:c.3369+46T>C	XP_006720911.1:n.3369+46T>C
XM_011522380.1:c.3315+46T>C	XP_011520682.1:n.3315+46T>C
XM_011522381.1:c.2616+46T>C	XP_011520683.1:n.2616+46T>C
XM_011522382.1:c.3369+46T>C	XP_011520684.1:n.3369+46T>C
XM_005255124.4:c.3324+46T>C	XP_005255181.1:n.3324+46T>C
XM_005255125.4:c.2952+46T>C	XP_005255182.1:n.2952+46T>C
XM_006720848.3:c.3369+46T>C	XP_006720911.1:n.3369+46T>C
XM_011522381.2:c.2616+46T>C	XP_011520683.1:n.2616+46T>C
XM_011522382.3:c.3369+46T>C	XP_011520684.1:n.3369+46T>C
XM_017022944.1:c.3363+46T>C	XP_016878433.1:n.3363+46T>C
NM_004380.3:c.3369+46T>C MANE Select	NP_004371.2:n.3369+46T>C