Canonical Allele Identifier: CA7868908

Gene: CREBBP

Linked Data

• dbSNP Id: rs755034771
• ExAC: 16:3777707 G / A
• gnomAD v2: 16-3777707-G-A
• gnomAD v4: 16-3727706-G-A
• MyVariant Identifiers: chr16:g.3777707G>A (hg19) ; chr16:g.3727706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727706G>A , CM000678.2:g.3727706G>A	GRCh38
NC_000016.9:g.3777707G>A , CM000678.1:g.3777707G>A	GRCh37
NC_000016.8:g.3717708G>A	NCBI36
NG_009873.1:g.157415C>T
NG_009873.2:g.158008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.*12C>T MANE Select	ENSP00000262367.5:n.*12C>T
ENST00000262367.9:c.*12C>T	ENSP00000262367.5:n.*12C>T
ENST00000382070.7:c.*12C>T	ENSP00000371502.3:n.*12C>T
NM_001079846.1:c.*12C>T	NP_001073315.1:n.*12C>T
NM_004380.2:c.*12C>T	NP_004371.2:n.*12C>T
XM_005255124.3:c.*12C>T	XP_005255181.1:n.*12C>T
XM_005255125.3:c.*12C>T	XP_005255182.1:n.*12C>T
XM_006720848.2:c.*12C>T	XP_006720911.1:n.*12C>T
XM_011522380.1:c.*12C>T	XP_011520682.1:n.*12C>T
XM_011522381.1:c.*12C>T	XP_011520683.1:n.*12C>T
XM_005255124.4:c.*12C>T	XP_005255181.1:n.*12C>T
XM_005255125.4:c.*12C>T	XP_005255182.1:n.*12C>T
XM_006720848.3:c.*12C>T	XP_006720911.1:n.*12C>T
XM_011522381.2:c.*12C>T	XP_011520683.1:n.*12C>T
XM_017022944.1:c.*12C>T	XP_016878433.1:n.*12C>T
NM_004380.3:c.*12C>T MANE Select	NP_004371.2:n.*12C>T