Canonical Allele Identifier: CA394550107

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777742C>G (hg19) ; chr16:g.3727741C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727741C>G , CM000678.2:g.3727741C>G	GRCh38
NC_000016.9:g.3777742C>G , CM000678.1:g.3777742C>G	GRCh37
NC_000016.8:g.3717743C>G	NCBI36
NG_009873.1:g.157380G>C
NG_009873.2:g.157973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7306G>C MANE Select	ENSP00000262367.5:p.Glu2436Gln
ENST00000262367.9:c.7306G>C	ENSP00000262367.5:p.Glu2436Gln
ENST00000382070.7:c.7192G>C	ENSP00000371502.3:p.Glu2398Gln
NM_001079846.1:c.7192G>C	NP_001073315.1:p.Glu2398Gln
NM_004380.2:c.7306G>C	NP_004371.2:p.Glu2436Gln
XM_005255124.3:c.7261G>C	XP_005255181.1:p.Glu2421Gln
XM_005255125.3:c.6889G>C	XP_005255182.1:p.Glu2297Gln
XM_006720848.2:c.7045G>C	XP_006720911.1:p.Glu2349Gln
XM_011522380.1:c.7252G>C	XP_011520682.1:p.Glu2418Gln
XM_011522381.1:c.6553G>C	XP_011520683.1:p.Glu2185Gln
XM_005255124.4:c.7261G>C	XP_005255181.1:p.Glu2421Gln
XM_005255125.4:c.6889G>C	XP_005255182.1:p.Glu2297Gln
XM_006720848.3:c.7045G>C	XP_006720911.1:p.Glu2349Gln
XM_011522381.2:c.6553G>C	XP_011520683.1:p.Glu2185Gln
XM_017022944.1:c.7300G>C	XP_016878433.1:p.Glu2434Gln
NM_004380.3:c.7306G>C MANE Select	NP_004371.2:p.Glu2436Gln