Canonical Allele Identifier: CA394556021

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151309918
• gnomAD v4: 16-3729488-C-G
• MyVariant Identifiers: chr16:g.3779489C>G (hg19) ; chr16:g.3729488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729488C>G , CM000678.2:g.3729488C>G	GRCh38
NC_000016.9:g.3779489C>G , CM000678.1:g.3779489C>G	GRCh37
NC_000016.8:g.3719490C>G	NCBI36
NG_009873.1:g.155633G>C
NG_009873.2:g.156226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5559G>C MANE Select	ENSP00000262367.5:p.Gln1853His
ENST00000262367.9:c.5559G>C	ENSP00000262367.5:p.Gln1853His
ENST00000382070.7:c.5445G>C	ENSP00000371502.3:p.Gln1815His
NM_001079846.1:c.5445G>C	NP_001073315.1:p.Gln1815His
NM_004380.2:c.5559G>C	NP_004371.2:p.Gln1853His
XM_005255124.3:c.5514G>C	XP_005255181.1:p.Gln1838His
XM_005255125.3:c.5142G>C	XP_005255182.1:p.Gln1714His
XM_006720848.2:c.5298G>C	XP_006720911.1:p.Gln1766His
XM_011522380.1:c.5505G>C	XP_011520682.1:p.Gln1835His
XM_011522381.1:c.4806G>C	XP_011520683.1:p.Gln1602His
XM_005255124.4:c.5514G>C	XP_005255181.1:p.Gln1838His
XM_005255125.4:c.5142G>C	XP_005255182.1:p.Gln1714His
XM_006720848.3:c.5298G>C	XP_006720911.1:p.Gln1766His
XM_011522381.2:c.4806G>C	XP_011520683.1:p.Gln1602His
XM_017022944.1:c.5553G>C	XP_016878433.1:p.Gln1851His
NM_004380.3:c.5559G>C MANE Select	NP_004371.2:p.Gln1853His