Canonical Allele Identifier: CA493393912

Gene: CREBBP

Linked Data

• dbSNP Id: rs537609194
• gnomAD v2: 16-3779204-C-G
• gnomAD v3: 16-3729203-C-G
• gnomAD v4: 16-3729203-C-G
• MyVariant Identifiers: chr16:g.3779204C>G (hg19) ; chr16:g.3729203C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729203C>G , CM000678.2:g.3729203C>G	GRCh38
NC_000016.9:g.3779204C>G , CM000678.1:g.3779204C>G	GRCh37
NC_000016.8:g.3719205C>G	NCBI36
NG_009873.1:g.155918G>C
NG_009873.2:g.156511G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.5844G>C MANE Select	ENSP00000262367.5:p.Pro1948=
ENST00000262367.9:c.5844G>C	ENSP00000262367.5:p.Pro1948=
ENST00000382070.7:c.5730G>C	ENSP00000371502.3:p.Pro1910=
NM_001079846.1:c.5730G>C	NP_001073315.1:p.Pro1910=
NM_004380.2:c.5844G>C	NP_004371.2:p.Pro1948=
XM_005255124.3:c.5799G>C	XP_005255181.1:p.Pro1933=
XM_005255125.3:c.5427G>C	XP_005255182.1:p.Pro1809=
XM_006720848.2:c.5583G>C	XP_006720911.1:p.Pro1861=
XM_011522380.1:c.5790G>C	XP_011520682.1:p.Pro1930=
XM_011522381.1:c.5091G>C	XP_011520683.1:p.Pro1697=
XM_005255124.4:c.5799G>C	XP_005255181.1:p.Pro1933=
XM_005255125.4:c.5427G>C	XP_005255182.1:p.Pro1809=
XM_006720848.3:c.5583G>C	XP_006720911.1:p.Pro1861=
XM_011522381.2:c.5091G>C	XP_011520683.1:p.Pro1697=
XM_017022944.1:c.5838G>C	XP_016878433.1:p.Pro1946=
NM_004380.3:c.5844G>C MANE Select	NP_004371.2:p.Pro1948=