Canonical Allele Identifier: CA394563463

Gene: CREBBP

Linked Data

• dbSNP Id: rs1421200546
• MyVariant Identifiers: chr16:g.3786687G>C (hg19) ; chr16:g.3736686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736686G>C , CM000678.2:g.3736686G>C	GRCh38
NC_000016.9:g.3786687G>C , CM000678.1:g.3786687G>C	GRCh37
NC_000016.8:g.3726688G>C	NCBI36
NG_009873.1:g.148435C>G
NG_009873.2:g.149028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4524C>G MANE Select	ENSP00000262367.5:p.Asp1508Glu
ENST00000262367.9:c.4524C>G	ENSP00000262367.5:p.Asp1508Glu
ENST00000382070.7:c.4410C>G	ENSP00000371502.3:p.Asp1470Glu
ENST00000570939.2:c.3159C>G	ENSP00000461002.2:p.Asp1053Glu
ENST00000571763.5:n.314C>G
ENST00000574740.1:n.345C>G
ENST00000576720.1:n.3347C>G
NM_001079846.1:c.4410C>G	NP_001073315.1:p.Asp1470Glu
NM_004380.2:c.4524C>G	NP_004371.2:p.Asp1508Glu
XM_005255124.3:c.4479C>G	XP_005255181.1:p.Asp1493Glu
XM_005255125.3:c.4107C>G	XP_005255182.1:p.Asp1369Glu
XM_006720848.2:c.4263C>G	XP_006720911.1:p.Asp1421Glu
XM_011522380.1:c.4470C>G	XP_011520682.1:p.Asp1490Glu
XM_011522381.1:c.3771C>G	XP_011520683.1:p.Asp1257Glu
XM_005255124.4:c.4479C>G	XP_005255181.1:p.Asp1493Glu
XM_005255125.4:c.4107C>G	XP_005255182.1:p.Asp1369Glu
XM_006720848.3:c.4263C>G	XP_006720911.1:p.Asp1421Glu
XM_011522381.2:c.3771C>G	XP_011520683.1:p.Asp1257Glu
XM_017022944.1:c.4518C>G	XP_016878433.1:p.Asp1506Glu
NM_004380.3:c.4524C>G MANE Select	NP_004371.2:p.Asp1508Glu