Canonical Allele Identifier: CA394563972

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329922
• MyVariant Identifiers: chr16:g.3786779C>G (hg19) ; chr16:g.3736778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736778C>G , CM000678.2:g.3736778C>G	GRCh38
NC_000016.9:g.3786779C>G , CM000678.1:g.3786779C>G	GRCh37
NC_000016.8:g.3726780C>G	NCBI36
NG_009873.1:g.148343G>C
NG_009873.2:g.148936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4432G>C MANE Select	ENSP00000262367.5:p.Glu1478Gln
ENST00000262367.9:c.4432G>C	ENSP00000262367.5:p.Glu1478Gln
ENST00000382070.7:c.4318G>C	ENSP00000371502.3:p.Glu1440Gln
ENST00000570939.2:c.3067G>C	ENSP00000461002.2:p.Glu1023Gln
ENST00000571763.5:n.222G>C
ENST00000574740.1:n.253G>C
ENST00000576720.1:n.3255G>C
NM_001079846.1:c.4318G>C	NP_001073315.1:p.Glu1440Gln
NM_004380.2:c.4432G>C	NP_004371.2:p.Glu1478Gln
XM_005255124.3:c.4387G>C	XP_005255181.1:p.Glu1463Gln
XM_005255125.3:c.4015G>C	XP_005255182.1:p.Glu1339Gln
XM_006720848.2:c.4171G>C	XP_006720911.1:p.Glu1391Gln
XM_011522380.1:c.4378G>C	XP_011520682.1:p.Glu1460Gln
XM_011522381.1:c.3679G>C	XP_011520683.1:p.Glu1227Gln
XM_005255124.4:c.4387G>C	XP_005255181.1:p.Glu1463Gln
XM_005255125.4:c.4015G>C	XP_005255182.1:p.Glu1339Gln
XM_006720848.3:c.4171G>C	XP_006720911.1:p.Glu1391Gln
XM_011522381.2:c.3679G>C	XP_011520683.1:p.Glu1227Gln
XM_017022944.1:c.4426G>C	XP_016878433.1:p.Glu1476Gln
NM_004380.3:c.4432G>C MANE Select	NP_004371.2:p.Glu1478Gln