Canonical Allele Identifier: CA394557498

Gene: CREBBP

Linked Data

• dbSNP Id: rs199524407
• MyVariant Identifiers: chr16:g.3779798A>C (hg19) ; chr16:g.3729797A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729797A>C , CM000678.2:g.3729797A>C	GRCh38
NC_000016.9:g.3779798A>C , CM000678.1:g.3779798A>C	GRCh37
NC_000016.8:g.3719799A>C	NCBI36
NG_009873.1:g.155324T>G
NG_009873.2:g.155917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5250T>G MANE Select	ENSP00000262367.5:p.Asp1750Glu
ENST00000262367.9:c.5250T>G	ENSP00000262367.5:p.Asp1750Glu
ENST00000382070.7:c.5136T>G	ENSP00000371502.3:p.Asp1712Glu
NM_001079846.1:c.5136T>G	NP_001073315.1:p.Asp1712Glu
NM_004380.2:c.5250T>G	NP_004371.2:p.Asp1750Glu
XM_005255124.3:c.5205T>G	XP_005255181.1:p.Asp1735Glu
XM_005255125.3:c.4833T>G	XP_005255182.1:p.Asp1611Glu
XM_006720848.2:c.4989T>G	XP_006720911.1:p.Asp1663Glu
XM_011522380.1:c.5196T>G	XP_011520682.1:p.Asp1732Glu
XM_011522381.1:c.4497T>G	XP_011520683.1:p.Asp1499Glu
XM_005255124.4:c.5205T>G	XP_005255181.1:p.Asp1735Glu
XM_005255125.4:c.4833T>G	XP_005255182.1:p.Asp1611Glu
XM_006720848.3:c.4989T>G	XP_006720911.1:p.Asp1663Glu
XM_011522381.2:c.4497T>G	XP_011520683.1:p.Asp1499Glu
XM_017022944.1:c.5244T>G	XP_016878433.1:p.Asp1748Glu
NM_004380.3:c.5250T>G MANE Select	NP_004371.2:p.Asp1750Glu