Canonical Allele Identifier: CA394550122

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777750T>G (hg19) ; chr16:g.3727749T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727749T>G , CM000678.2:g.3727749T>G	GRCh38
NC_000016.9:g.3777750T>G , CM000678.1:g.3777750T>G	GRCh37
NC_000016.8:g.3717751T>G	NCBI36
NG_009873.1:g.157372A>C
NG_009873.2:g.157965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7298A>C MANE Select	ENSP00000262367.5:p.Asp2433Ala
ENST00000262367.9:c.7298A>C	ENSP00000262367.5:p.Asp2433Ala
ENST00000382070.7:c.7184A>C	ENSP00000371502.3:p.Asp2395Ala
NM_001079846.1:c.7184A>C	NP_001073315.1:p.Asp2395Ala
NM_004380.2:c.7298A>C	NP_004371.2:p.Asp2433Ala
XM_005255124.3:c.7253A>C	XP_005255181.1:p.Asp2418Ala
XM_005255125.3:c.6881A>C	XP_005255182.1:p.Asp2294Ala
XM_006720848.2:c.7037A>C	XP_006720911.1:p.Asp2346Ala
XM_011522380.1:c.7244A>C	XP_011520682.1:p.Asp2415Ala
XM_011522381.1:c.6545A>C	XP_011520683.1:p.Asp2182Ala
XM_005255124.4:c.7253A>C	XP_005255181.1:p.Asp2418Ala
XM_005255125.4:c.6881A>C	XP_005255182.1:p.Asp2294Ala
XM_006720848.3:c.7037A>C	XP_006720911.1:p.Asp2346Ala
XM_011522381.2:c.6545A>C	XP_011520683.1:p.Asp2182Ala
XM_017022944.1:c.7292A>C	XP_016878433.1:p.Asp2431Ala
NM_004380.3:c.7298A>C MANE Select	NP_004371.2:p.Asp2433Ala