Canonical Allele Identifier: CA394565286

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151340176
• gnomAD v4: 16-3740440-G-C
• MyVariant Identifiers: chr16:g.3790441G>C (hg19) ; chr16:g.3740440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740440G>C , CM000678.2:g.3740440G>C	GRCh38
NC_000016.9:g.3790441G>C , CM000678.1:g.3790441G>C	GRCh37
NC_000016.8:g.3730442G>C	NCBI36
NG_009873.1:g.144681C>G
NG_009873.2:g.145274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4092C>G MANE Select	ENSP00000262367.5:p.Ser1364Arg
ENST00000262367.9:c.4092C>G	ENSP00000262367.5:p.Ser1364Arg
ENST00000382070.7:c.3978C>G	ENSP00000371502.3:p.Ser1326Arg
ENST00000570939.2:c.2727C>G	ENSP00000461002.2:p.Ser909Arg
ENST00000573517.6:c.398C>G
ENST00000574740.1:n.174C>G
ENST00000576720.1:n.3029C>G
NM_001079846.1:c.3978C>G	NP_001073315.1:p.Ser1326Arg
NM_004380.2:c.4092C>G	NP_004371.2:p.Ser1364Arg
XM_005255124.3:c.4047C>G	XP_005255181.1:p.Ser1349Arg
XM_005255125.3:c.3675C>G	XP_005255182.1:p.Ser1225Arg
XM_006720848.2:c.4092C>G	XP_006720911.1:p.Ser1364Arg
XM_011522380.1:c.4038C>G	XP_011520682.1:p.Ser1346Arg
XM_011522381.1:c.3339C>G	XP_011520683.1:p.Ser1113Arg
XM_005255124.4:c.4047C>G	XP_005255181.1:p.Ser1349Arg
XM_005255125.4:c.3675C>G	XP_005255182.1:p.Ser1225Arg
XM_006720848.3:c.4092C>G	XP_006720911.1:p.Ser1364Arg
XM_011522381.2:c.3339C>G	XP_011520683.1:p.Ser1113Arg
XM_017022944.1:c.4086C>G	XP_016878433.1:p.Ser1362Arg
NM_004380.3:c.4092C>G MANE Select	NP_004371.2:p.Ser1364Arg