Canonical Allele Identifier: CA394557814

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151312732
• MyVariant Identifiers: chr16:g.3779868T>G (hg19) ; chr16:g.3729867T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729867T>G , CM000678.2:g.3729867T>G	GRCh38
NC_000016.9:g.3779868T>G , CM000678.1:g.3779868T>G	GRCh37
NC_000016.8:g.3719869T>G	NCBI36
NG_009873.1:g.155254A>C
NG_009873.2:g.155847A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5180A>C MANE Select	ENSP00000262367.5:p.Asp1727Ala
ENST00000262367.9:c.5180A>C	ENSP00000262367.5:p.Asp1727Ala
ENST00000382070.7:c.5066A>C	ENSP00000371502.3:p.Asp1689Ala
NM_001079846.1:c.5066A>C	NP_001073315.1:p.Asp1689Ala
NM_004380.2:c.5180A>C	NP_004371.2:p.Asp1727Ala
XM_005255124.3:c.5135A>C	XP_005255181.1:p.Asp1712Ala
XM_005255125.3:c.4763A>C	XP_005255182.1:p.Asp1588Ala
XM_006720848.2:c.4919A>C	XP_006720911.1:p.Asp1640Ala
XM_011522380.1:c.5126A>C	XP_011520682.1:p.Asp1709Ala
XM_011522381.1:c.4427A>C	XP_011520683.1:p.Asp1476Ala
XM_005255124.4:c.5135A>C	XP_005255181.1:p.Asp1712Ala
XM_005255125.4:c.4763A>C	XP_005255182.1:p.Asp1588Ala
XM_006720848.3:c.4919A>C	XP_006720911.1:p.Asp1640Ala
XM_011522381.2:c.4427A>C	XP_011520683.1:p.Asp1476Ala
XM_017022944.1:c.5174A>C	XP_016878433.1:p.Asp1725Ala
NM_004380.3:c.5180A>C MANE Select	NP_004371.2:p.Asp1727Ala