Canonical Allele Identifier: CA394550339

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298665
• MyVariant Identifiers: chr16:g.3777855C>G (hg19) ; chr16:g.3727854C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727854C>G , CM000678.2:g.3727854C>G	GRCh38
NC_000016.9:g.3777855C>G , CM000678.1:g.3777855C>G	GRCh37
NC_000016.8:g.3717856C>G	NCBI36
NG_009873.1:g.157267G>C
NG_009873.2:g.157860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7193G>C MANE Select	ENSP00000262367.5:p.Gly2398Ala
ENST00000262367.9:c.7193G>C	ENSP00000262367.5:p.Gly2398Ala
ENST00000382070.7:c.7079G>C	ENSP00000371502.3:p.Gly2360Ala
NM_001079846.1:c.7079G>C	NP_001073315.1:p.Gly2360Ala
NM_004380.2:c.7193G>C	NP_004371.2:p.Gly2398Ala
XM_005255124.3:c.7148G>C	XP_005255181.1:p.Gly2383Ala
XM_005255125.3:c.6776G>C	XP_005255182.1:p.Gly2259Ala
XM_006720848.2:c.6932G>C	XP_006720911.1:p.Gly2311Ala
XM_011522380.1:c.7139G>C	XP_011520682.1:p.Gly2380Ala
XM_011522381.1:c.6440G>C	XP_011520683.1:p.Gly2147Ala
XM_005255124.4:c.7148G>C	XP_005255181.1:p.Gly2383Ala
XM_005255125.4:c.6776G>C	XP_005255182.1:p.Gly2259Ala
XM_006720848.3:c.6932G>C	XP_006720911.1:p.Gly2311Ala
XM_011522381.2:c.6440G>C	XP_011520683.1:p.Gly2147Ala
XM_017022944.1:c.7187G>C	XP_016878433.1:p.Gly2396Ala
NM_004380.3:c.7193G>C MANE Select	NP_004371.2:p.Gly2398Ala