Canonical Allele Identifier: CA493279215

Gene: CREBBP

Linked Data

• dbSNP Id: rs1421200546
• gnomAD v2: 16-3786687-G-A
• MyVariant Identifiers: chr16:g.3786687G>A (hg19) ; chr16:g.3736686G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4524C>T MANE Select	ENSP00000262367.5:p.Asp1508=
ENST00000262367.9:c.4524C>T	ENSP00000262367.5:p.Asp1508=
ENST00000382070.7:c.4410C>T	ENSP00000371502.3:p.Asp1470=
ENST00000570939.2:c.3159C>T	ENSP00000461002.2:p.Asp1053=
ENST00000571763.5:n.314C>T
ENST00000574740.1:n.345C>T
ENST00000576720.1:n.3347C>T
NM_001079846.1:c.4410C>T	NP_001073315.1:p.Asp1470=
NM_004380.2:c.4524C>T	NP_004371.2:p.Asp1508=
XM_005255124.3:c.4479C>T	XP_005255181.1:p.Asp1493=
XM_005255125.3:c.4107C>T	XP_005255182.1:p.Asp1369=
XM_006720848.2:c.4263C>T	XP_006720911.1:p.Asp1421=
XM_011522380.1:c.4470C>T	XP_011520682.1:p.Asp1490=
XM_011522381.1:c.3771C>T	XP_011520683.1:p.Asp1257=
XM_005255124.4:c.4479C>T	XP_005255181.1:p.Asp1493=
XM_005255125.4:c.4107C>T	XP_005255182.1:p.Asp1369=
XM_006720848.3:c.4263C>T	XP_006720911.1:p.Asp1421=
XM_011522381.2:c.3771C>T	XP_011520683.1:p.Asp1257=
XM_017022944.1:c.4518C>T	XP_016878433.1:p.Asp1506=
NM_004380.3:c.4524C>T MANE Select	NP_004371.2:p.Asp1508=