Canonical Allele Identifier: CA493393081

Gene: CREBBP

Linked Data

• dbSNP Id: rs764396354
• MyVariant Identifiers: chr16:g.3777767G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727766G>C , CM000678.2:g.3727766G>C	GRCh38
NC_000016.9:g.3777767G>C , CM000678.1:g.3777767G>C	GRCh37
NC_000016.8:g.3717768G>C	NCBI36
NG_009873.1:g.157355C>G
NG_009873.2:g.157948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7281C>G MANE Select	ENSP00000262367.5:p.Val2427=
ENST00000262367.9:c.7281C>G	ENSP00000262367.5:p.Val2427=
ENST00000382070.7:c.7167C>G	ENSP00000371502.3:p.Val2389=
NM_001079846.1:c.7167C>G	NP_001073315.1:p.Val2389=
NM_004380.2:c.7281C>G	NP_004371.2:p.Val2427=
XM_005255124.3:c.7236C>G	XP_005255181.1:p.Val2412=
XM_005255125.3:c.6864C>G	XP_005255182.1:p.Val2288=
XM_006720848.2:c.7020C>G	XP_006720911.1:p.Val2340=
XM_011522380.1:c.7227C>G	XP_011520682.1:p.Val2409=
XM_011522381.1:c.6528C>G	XP_011520683.1:p.Val2176=
XM_005255124.4:c.7236C>G	XP_005255181.1:p.Val2412=
XM_005255125.4:c.6864C>G	XP_005255182.1:p.Val2288=
XM_006720848.3:c.7020C>G	XP_006720911.1:p.Val2340=
XM_011522381.2:c.6528C>G	XP_011520683.1:p.Val2176=
XM_017022944.1:c.7275C>G	XP_016878433.1:p.Val2425=
NM_004380.3:c.7281C>G MANE Select	NP_004371.2:p.Val2427=